Disease on EC 1.2.1.16 - succinate-semialdehyde dehydrogenase [NAD(P)+]
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4-aminobutyrate-2-oxoglutarate transaminase deficiency
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
4-aminobutyrate-2-oxoglutarate transaminase deficiency
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
4-aminobutyrate-2-oxoglutarate transaminase deficiency
Inherited disorders of GABA metabolism.
4-aminobutyrate-2-oxoglutarate transaminase deficiency
Pediatric neurotransmitter diseases.
4-aminobutyrate-2-oxoglutarate transaminase deficiency
Review: Normal and abnormal central nervous system GABA metabolism in childhood.
4-aminobutyrate-2-oxoglutarate transaminase deficiency
The pediatric neurotransmitter disorders.
alcohol dehydrogenase deficiency
Aberrant GABA(A) receptor-mediated inhibition in cortico-thalamic networks of succinic semialdehyde dehydrogenase deficient mice.
alcohol dehydrogenase deficiency
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy.
alcohol dehydrogenase deficiency
Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity.
alcohol dehydrogenase deficiency
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
alcohol dehydrogenase deficiency
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase.
alcohol dehydrogenase deficiency
Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function.
Alzheimer Disease
Implications for altered glutamate and GABA metabolism in the dorsolateral prefrontal cortex of aged schizophrenic patients.
Aneurysm, Ruptured
Acute subdural hematomas caused by ruptured aneurysms: experience from a single Turkish center.
Aniridia
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.
aspartoacylase deficiency
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
Ataxia
A ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotype.
Ataxia
Cerebellar Atrophy in Human and Murine Succinic Semialdehyde Dehydrogenase Deficiency.
Ataxia
Plasticity of postsynaptic, but not presynaptic, GABAB receptors in SSADH deficient mice.
Ataxia
SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex.
Ataxia
The effects of a ketogenic diet on ATP concentrations and the number of hippocampal mitochondria in Aldh5a1(-/-) mice.
Basal Ganglia Diseases
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
beta-Mannosidosis
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.
Brain Diseases
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.
Brain Diseases
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Bronchiolitis
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.
Canavan Disease
Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency.
Canavan Disease
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
Carcinoma, Intraductal, Noninfiltrating
Subareolar sclerosing duct hyperplasia of the breast.
Cauda Equina Syndrome
Surgical treatment of progressive cauda equina compression caused by spontaneous spinal subdural hematoma: A case report.
Cerebral Palsy
Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
Deafness
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
dihydropyrimidinase deficiency
Autism: Screening of inborn errors of metabolism and unexpected results.
Dihydropyrimidine Dehydrogenase Deficiency
Autism: Screening of inborn errors of metabolism and unexpected results.
Disorders of Excessive Somnolence
Effect of genetically caused excess of brain gamma-hydroxybutyric acid and GABA on sleep.
Dwarfism
GABA shunt deficiencies and accumulation of reactive oxygen intermediates: insight from Arabidopsis mutants.
Dystonia
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.
Dystonia
When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center.
Epilepsies, Myoclonic
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment.
Epilepsy
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
Epilepsy
Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy.
Epilepsy
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Epilepsy
Plasticity of postsynaptic, but not presynaptic, GABAB receptors in SSADH deficient mice.
Epilepsy
Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency.
Epilepsy, Absence
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy.
Epilepsy, Absence
Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency.
Epilepsy, Generalized
Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity.
Fragile X Syndrome
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment.
fructose-bisphosphatase deficiency
Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry.
Glioblastoma
Lumbosacral subdural hematoma following glioblastoma multiforme resection: possible radiographic evidence for the downward migration of intracranial blood.
Glioma
GABA, glutamine, glutamate oxidation and succinic semialdehyde dehydrogenase expression in human gliomas.
glutaryl-coa dehydrogenase (etf) deficiency
Neurological manifestations of organic acid disorders.
Glycogen Storage Disease
Autism: Screening of inborn errors of metabolism and unexpected results.
Hematoma, Subdural
Atypical traumatic craniocervical junction focal spinal subdural hematoma.
Hematoma, Subdural
Spinal subdural hematoma associated with traumatic intracranial interhemispheric subdural hematoma.
Hematoma, Subdural, Chronic
Lumbar Subdural Hematoma Detected After Surgical Treatment of Chronic Intracranial Subdural Hematoma.
Hematoma, Subdural, Intracranial
Spinal subdural hematoma: a sequela of a ruptured intracranial aneurysm?
Hemiplegia
Acute spinal subdural hematoma presenting with spontaneously resolving hemiplegia.
Hepatolenticular Degeneration
Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.
Hyperglycinemia, Nonketotic
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Hyperglycinemia, Nonketotic
When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center.
Hypersensitivity
GABA shunt deficiencies and accumulation of reactive oxygen intermediates: insight from Arabidopsis mutants.
Hypobetalipoproteinemias
Autism: Screening of inborn errors of metabolism and unexpected results.
Hypoglycemia
Aminobutyrate aminotransferase and succinate semialdehyde dehydrogenase in regions of rat brain after insulin-induced hypoglycemia.
Hypothyroidism
Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism.
Intellectual Disability
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
Intellectual Disability
Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
Intellectual Disability
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.
Intellectual Disability
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
Intellectual Disability
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment.
Intellectual Disability
Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency.
Intellectual Disability
Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men.
Intellectual Disability
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
Intervertebral Disc Displacement
An Acute Spinal Intradural Hematoma after an Extraforaminal Wiltse Approach: A Case Report and Review of the Literature.
Kearns-Sayre Syndrome
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Kernicterus
Subthalamic nucleus involvement in children: A neuroimaging pattern-recognition approach.
Language Development Disorders
Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.
Learning Disabilities
A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability.
Leigh Disease
Subthalamic nucleus involvement in children: A neuroimaging pattern-recognition approach.
Lesch-Nyhan Syndrome
Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).
Liver Failure
Subthalamic nucleus involvement in children: A neuroimaging pattern-recognition approach.
Lupus Erythematosus, Systemic
Acute spinal subdural hematoma in a patient with active systemic lupus erythematosus: a case report and literature review.
Lysosomal Storage Diseases
Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.
Metabolic Diseases
Inhibition of rat brain lipid synthesis in vitro by 4-hydroxybutyric acid.
Metabolism, Inborn Errors
D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
Metabolism, Inborn Errors
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
monoamine oxidase deficiency
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
monoamine oxidase deficiency
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.
Muscle Hypotonia
Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency.
Muscle Hypotonia
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency.
Muscle Hypotonia
Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men.
Myoclonic Epilepsies, Progressive
Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.
Narcolepsy
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency.
Neoplasms
Accumulated Metabolites of Hydroxybutyric Acid Serve as Diagnostic and Prognostic Biomarkers of Ovarian High-Grade Serous Carcinomas.
Nervous System Diseases
4-Hydroxybutyric aciduria associated with catheter usage: A diagnostic pitfall in the identification of SSADH deficiency.
Nervous System Diseases
A pharmacokinetic evaluation and metabolite identification of the GHB receptor antagonist NCS-382 in mouse informs novel therapeutic strategies for the treatment of GHB intoxication.
Nervous System Diseases
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.
Neurodegenerative Diseases
Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
Neurofibromatoses
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment.
Neurofibromatosis 1
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment.
Neuroleptic Malignant Syndrome
Neuroleptic malignant syndrome in a patient with succinic semialdehyde dehydrogenase deficiency.
Neurologic Manifestations
10 Levels thoracic no-intrumented laminectomy for huge spontaneous spinal subdural hematoma removal. Report of the first case and literature review.
Neurologic Manifestations
Acute spinal subdural hematoma in a patient with active systemic lupus erythematosus: a case report and literature review.
Neurologic Manifestations
Non-Traumatic Spontaneous Spinal Subdural Hematoma in a Patient with Non-Valvular Atrial Fibrillation During Treatment with Rivaroxaban.
Nystagmus, Congenital
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment.
Obesity
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.
Paralysis
Spinal subdural hematoma associated with traumatic intracranial interhemispheric subdural hematoma.
Paraparesis
Spontaneous acute spinal subdural hematoma: spontaneous recovery from severe paraparesis-case report and review.
Paraparesis
Spontaneous Spinal Subdural Hematoma causing Brown-Séquard Syndrome with Thrombocytopenic Myelodysplastic Syndrome.
Paraplegia
Acute, Nontraumatic Spontaneous Spinal Subdural Hematoma: A Case Report and Systematic Review of the Literature.
Paresis
Lumbar Subdural Hematoma Detected After Surgical Treatment of Chronic Intracranial Subdural Hematoma.
Phenylketonurias
Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).
Phenylketonurias
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
Pyruvate Dehydrogenase Complex Deficiency Disease
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Pyruvate Dehydrogenase Complex Deficiency Disease
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Rett Syndrome
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment.
Rett Syndrome
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
Seizures
A ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotype.
Seizures
Aberrant GABA(A) receptor-mediated inhibition in cortico-thalamic networks of succinic semialdehyde dehydrogenase deficient mice.
Seizures
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy.
Seizures
Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity.
Seizures
Cerebellar Atrophy in Human and Murine Succinic Semialdehyde Dehydrogenase Deficiency.
Seizures
Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
Seizures
Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency.
Seizures
Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency.
Seizures
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase.
Seizures
Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency.
Seizures
Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency.
Seizures
Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA).
Seizures
SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex.
Seizures
Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria).
Seizures
The altered expression of GABA shunt enzymes in the gerbil hippocampus before and after seizure generation.
Seizures
The effects of a ketogenic diet on ATP concentrations and the number of hippocampal mitochondria in Aldh5a1(-/-) mice.
Seizures
When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center.
Sleep Wake Disorders
Sleep disorders in succinic semialdehyde dehydrogenase deficiency: a family report.
Sleep Wake Disorders
Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men.
Status Epilepticus
A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression.
Status Epilepticus
Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency.
Status Epilepticus
Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency.
Status Epilepticus
Status epilepticus in mice deficient for succinate semialdehyde dehydrogenase: GABAA receptor-mediated mechanisms.
Stroke
Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
4-Hydroxybutyric aciduria associated with catheter usage: A diagnostic pitfall in the identification of SSADH deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
A novel mutation of ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
A pharmacokinetic evaluation and metabolite identification of the GHB receptor antagonist NCS-382 in mouse informs novel therapeutic strategies for the treatment of GHB intoxication.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
A Randomized Controlled Trial of SGS-742, a ?-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
A unique mouse model for succinic semialdehyde dehydrogenase deficiency with implications for gamma hydroxybutyrate intoxication.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Acute Psychotic Syndrome in a Male Adolescent with Succinic Semialdehyde Dehydrogenase Deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Autism: Screening of inborn errors of metabolism and unexpected results.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase-deficient mice.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Cerebellar Atrophy in Human and Murine Succinic Semialdehyde Dehydrogenase Deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Characterization and pharmacology of the GHB receptor.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Corrigendum to succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses [Gene 574(2015) 41-47].
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Decreased GABA-A Binding on FMZ-PET in Succinic Semialdehyde Dehydrogenase Deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: Application to SSADH deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Diagnosis and Treatment of Neurotransmitter Disorders.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndrome.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Effect of valproic acid on the urinary metabolic profile of a patient with succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Enzymatic and immunologic identification of succinic semialdehyde dehydrogenase in rat and human neural and nonneural tissues.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice).
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in ?-Aminobutyric Acid Plasticity.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
GABA, gamma-hydroxybutyric acid, and neurological disease.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Gamma-Hydroxybutyrate content in dried bloodspots facilitates newborn detection of succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Head bobbing due to succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Inherited disorders of GABA metabolism.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Inhibition of rat brain lipid synthesis in vitro by 4-hydroxybutyric acid.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Lipid abnormalities in succinate semialdehyde dehydrogenase (Aldh5a1-/-) deficient mouse brain provide additional evidence for myelin alterations.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of ?-aminobutyric acid metabolism.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
MRI findings in succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Murine succinate semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria).
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Neuroleptic malignant syndrome in a patient with succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Neurological manifestations of organic acid disorders.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Neuropathology in succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Novel mutations in a Chinese family with two patients with succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Novel mutations in two unrelated Italian patients with SSADH deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Outcome of Patients With Inherited Neurotransmitter Disorders.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Pathophysiology and management of neuropsychiatric symptoms in succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Pediatric neurotransmitter diseases.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Review: Normal and abnormal central nervous system GABA metabolism in childhood.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA).
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria).
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Sleep disorders in succinic semialdehyde dehydrogenase deficiency: a family report.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Subthalamic nucleus involvement in children: A neuroimaging pattern-recognition approach.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinate semialdehyde dehydrogenase deficiency does not down-regulate gamma-hydroxybutyric acid binding sites in the mouse brain.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria).
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency in children and adults.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency in siblings: clinical heterogeneity and response to early treatment.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic Semialdehyde Dehydrogenase Deficiency Presenting as Autism Spectrum Disorder.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic Semialdehyde Dehydrogenase Deficiency: An Update.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Syndromic Autism Spectrum Disorder: Let Us Not Forget about Succinic Semialdehyde Dehydrogenase Deficiency. A Case Report with Literature Review.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for ?-hydroxybutyric acid (GHB) in biofluids.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Teaching NeuroImages: Symmetrical abnormalities of the globi pallidi in Succinic Semialdehyde Dehydrogenase Deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1-/- mice, a model of succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
The characterization of psychotic symptoms in succinic semialdehyde dehydrogenase deficiency: a review.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
The pediatric neurotransmitter disorders.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Thirty years beyond discovery-Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
[A case of succinic semialdehyde dehydrogenase deficiency]
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
[Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency].
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency].
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
[Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin]
Sudden Unexpected Death in Epilepsy
Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue.
Tarlov Cysts
Lumbar Subdural Hematoma Detected After Surgical Treatment of Chronic Intracranial Subdural Hematoma.
Tuberculosis
On the chemical mechanism of succinic semialdehyde dehydrogenase (GabD1) from Mycobacterium tuberculosis.
Vascular Malformations
An Acute Spinal Intradural Hematoma after an Extraforaminal Wiltse Approach: A Case Report and Review of the Literature.
WAGR Syndrome
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.
Wilms Tumor
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.
Xanthomatosis, Cerebrotendinous
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.
[pyruvate dehydrogenase (acetyl-transferring)]-phosphatase deficiency
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
[pyruvate dehydrogenase (acetyl-transferring)]-phosphatase deficiency
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
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