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Disease on EC 1.2.1.16 - succinate-semialdehyde dehydrogenase [NAD(P)+]

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
4-aminobutyrate-2-oxoglutarate transaminase deficiency
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
Inherited disorders of GABA metabolism.
Pediatric neurotransmitter diseases.
Review: Normal and abnormal central nervous system GABA metabolism in childhood.
The pediatric neurotransmitter disorders.
alcohol dehydrogenase deficiency
Aberrant GABA(A) receptor-mediated inhibition in cortico-thalamic networks of succinic semialdehyde dehydrogenase deficient mice.
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy.
Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity.
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase.
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.
Cerebellar Atrophy in Human and Murine Succinic Semialdehyde Dehydrogenase Deficiency.
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
Plasticity of postsynaptic, but not presynaptic, GABAB receptors in SSADH deficient mice.
SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex.
Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men.
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-ala-his dipeptidase deficiency
Inherited disorders of GABA metabolism.
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.
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Breast Carcinoma In Situ
Subareolar Sclerosing Ductal Hyperplasia.
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.
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
Carcinoma, Adenosquamous
Subareolar Sclerosing Ductal Hyperplasia.
Carcinoma, Ductal
Subareolar Sclerosing Ductal Hyperplasia.
Carcinoma, Intraductal, Noninfiltrating
Subareolar sclerosing duct hyperplasia of the breast.
Subareolar Sclerosing Ductal Hyperplasia.
Carcinoma, Lobular
Subareolar Sclerosing Ductal Hyperplasia.
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.
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
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
GABA, gamma-hydroxybutyric acid, and neurological disease.
Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy.
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Neuropathology in succinic semialdehyde dehydrogenase deficiency.
Pediatric neurotransmitter diseases.
Plasticity of postsynaptic, but not presynaptic, GABAB receptors in SSADH deficient mice.
Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men.
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.
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.
Genetic Diseases, Inborn
Inherited disorders of GABA metabolism.
Succinic Semialdehyde Dehydrogenase Deficiency: An Update.
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.
glutamate decarboxylase deficiency
The pediatric neurotransmitter disorders.
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.
Spinal subdural hematoma associated with traumatic intracranial interhemispheric subdural hematoma.
Spontaneous resolution of nontraumatic acute spinal 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.
The pediatric neurotransmitter disorders.
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.
Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment.
Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency.
Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men.
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?
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Mevalonate Kinase Deficiency
Neurological manifestations of organic acid disorders.
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.
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.
Neuropathology in succinic semialdehyde dehydrogenase deficiency.
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency.
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.
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.
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.
Acute spinal subdural hematoma in a patient with active systemic lupus erythematosus: a case report and literature review.
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.
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
Autism: Screening of inborn errors of metabolism and unexpected results.
Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).
Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder.
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
Porphyrias
Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.
Pyruvate Dehydrogenase Complex Deficiency Disease
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
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 (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
Seizures
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
A ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotype.
Aberrant GABA(A) receptor-mediated inhibition in cortico-thalamic networks of succinic semialdehyde dehydrogenase deficient mice.
Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy.
Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity.
Cerebellar Atrophy in Human and Murine Succinic Semialdehyde Dehydrogenase Deficiency.
Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency.
Inherited disorders of GABA metabolism.
Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency.
Murine succinate semialdehyde dehydrogenase deficiency.
Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder.
Neuropathology in succinic semialdehyde dehydrogenase deficiency.
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase.
Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency.
Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency.
Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA).
SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex.
Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria).
The altered expression of GABA shunt enzymes in the gerbil hippocampus before and after seizure generation.
The effects of a ketogenic diet on ATP concentrations and the number of hippocampal mitochondria in Aldh5a1(-/-) mice.
The pediatric neurotransmitter disorders.
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
GABA, gamma-hydroxybutyric acid, and neurological disease.
Sleep disorders in succinic semialdehyde dehydrogenase deficiency: a family report.
Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men.
Status Epilepticus
A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression.
Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency.
Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency.
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.
Subarachnoid Hemorrhage
Acute spontaneous spinal subdural hematoma with vague symptoms.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism.
4-Hydroxybutyric aciduria associated with catheter usage: A diagnostic pitfall in the identification of SSADH deficiency.
A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency.
A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review.
A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression.
A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog.
A novel ALDH5A1 mutation in a patient with succinic semialdehyde dehydrogenase deficiency.
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
A novel mutation of ALDH5A1 gene associated with succinic semialdehyde dehydrogenase 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.
A Randomized Controlled Trial of SGS-742, a ?-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency.
A unique mouse model for succinic semialdehyde dehydrogenase deficiency with implications for gamma hydroxybutyrate intoxication.
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.
Acute Psychotic Syndrome in a Male Adolescent with Succinic Semialdehyde Dehydrogenase Deficiency.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
Autism: Screening of inborn errors of metabolism and unexpected results.
Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency.
Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase-deficient mice.
Cerebellar Atrophy in Human and Murine Succinic Semialdehyde Dehydrogenase Deficiency.
Characterization and pharmacology of the GHB receptor.
Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency.
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.
Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
Corrigendum to succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses [Gene 574(2015) 41-47].
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.
Decreased GABA-A Binding on FMZ-PET in Succinic Semialdehyde Dehydrogenase Deficiency.
Defective succinic semialdehyde dehydrogenase activity in 4-hydroxybutyric aciduria.
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.
Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism.
Diagnosis and Treatment of Neurotransmitter Disorders.
Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry.
Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndrome.
Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia.
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
Effect of valproic acid on the urinary metabolic profile of a patient with succinic semialdehyde dehydrogenase deficiency.
Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.
Enzymatic and immunologic identification of succinic semialdehyde dehydrogenase in rat and human neural and nonneural tissues.
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice).
Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in ?-Aminobutyric Acid Plasticity.
Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency.
Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency.
Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency.
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.
GABA, gamma-hydroxybutyric acid, and neurological disease.
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency.
Gamma-Hydroxybutyrate content in dried bloodspots facilitates newborn detection of succinic semialdehyde dehydrogenase deficiency.
Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy.
Head bobbing due to succinic semialdehyde dehydrogenase deficiency.
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment.
In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.
Inherited disorders of GABA metabolism.
Inhibition of rat brain lipid synthesis in vitro by 4-hydroxybutyric acid.
Lipid abnormalities in succinate semialdehyde dehydrogenase (Aldh5a1-/-) deficient mouse brain provide additional evidence for myelin alterations.
Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency.
Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency.
Magnetic Resonance Imaging (MRI) and Spectroscopy in Succinic Semialdehyde Dehydrogenase Deficiency.
Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of ?-aminobutyric acid metabolism.
Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency.
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.
Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases.
Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency.
Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency.
MRI findings in succinic semialdehyde dehydrogenase 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.
Murine succinate semialdehyde dehydrogenase deficiency.
Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria).
Neuroleptic malignant syndrome in a patient with succinic semialdehyde dehydrogenase deficiency.
Neurological manifestations of organic acid disorders.
Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder.
Neuropathology in succinic semialdehyde dehydrogenase deficiency.
Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients.
Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency.
Novel mutations in a Chinese family with two patients with succinic semialdehyde dehydrogenase deficiency.
Novel mutations in two unrelated Italian patients with SSADH deficiency.
Outcome of Patients With Inherited Neurotransmitter Disorders.
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
Pathophysiology and management of neuropsychiatric symptoms in succinic semialdehyde dehydrogenase deficiency.
Pediatric neurotransmitter diseases.
Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue.
Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays.
Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins.
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase 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.
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
Review: Normal and abnormal central nervous system GABA metabolism in childhood.
Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA).
Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase deficiency.
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria).
Sleep disorders in succinic semialdehyde dehydrogenase deficiency: a family report.
Speech Motor Function and Auditory Perception in Succinic Semialdehyde Dehydrogenase Deficiency: Toward Pre-Supplementary Motor Area (SMA) and SMA-Proper Dysfunctions.
Subthalamic nucleus involvement in children: A neuroimaging pattern-recognition approach.
Succinate semialdehyde dehydrogenase deficiency does not down-regulate gamma-hydroxybutyric acid binding sites in the mouse brain.
Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria).
Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism.
Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling.
Succinic Semialdehyde Dehydrogenase Deficiency in a Chinese Boy: A Novel ALDH5A1 Mutation With Severe Phenotype.
Succinic semialdehyde dehydrogenase deficiency in children and adults.
Succinic semialdehyde dehydrogenase deficiency in siblings: clinical heterogeneity and response to early treatment.
Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses.
Succinic Semialdehyde Dehydrogenase Deficiency Presenting as Autism Spectrum Disorder.
Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism.
Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.
Succinic semialdehyde dehydrogenase deficiency.
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism.
Succinic Semialdehyde Dehydrogenase Deficiency: An Update.
Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation.
Succinic semialdehyde dehydrogenase deficiency: GABAB receptor-mediated function.
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men.
Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate.
Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study.
Succinic semialdehyde dehydrogenase deficiency: The combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability.
Syndromic Autism Spectrum Disorder: Let Us Not Forget about Succinic Semialdehyde Dehydrogenase Deficiency. A Case Report with Literature Review.
Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for ?-hydroxybutyric acid (GHB) in biofluids.
Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA.
Teaching NeuroImages: Symmetrical abnormalities of the globi pallidi in Succinic Semialdehyde Dehydrogenase Deficiency.
Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1-/- mice, a model of succinic semialdehyde dehydrogenase deficiency.
The characterization of psychotic symptoms in succinic semialdehyde dehydrogenase deficiency: a review.
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.
The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family.
The pediatric neurotransmitter disorders.
Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency.
Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
Thirty years beyond discovery-Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability.
Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
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.
Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency.
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.
Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency.
Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.
[A case of succinic semialdehyde dehydrogenase deficiency]
[Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency].
[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase 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.
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.