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Disease on EC 4.3.2.2 - adenylosuccinate lyase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
4-aminobutyrate-2-oxoglutarate transaminase deficiency
Cerebrospinal fluid as a tool in the diagnosis of neurometabolic diseases: amino acid analysis before and after acid hydrolysis.
5'-nucleotidase deficiency
Inborn errors of purine metabolism: clinical update and therapies.
adenine phosphoribosyltransferase deficiency
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
adenylosuccinate lyase deficiency
A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.
A new diagnostic technique for adenylosuccinate lyase deficiency.
A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.
Adenylosuccinase deficiency presenting with epilepsy in early infancy.
Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death.
Adenylosuccinase deficiency.
Adenylosuccinase deficiency: a newly recognized variant.
Adenylosuccinase deficiency: a patient with impaired erythrocyte activity and anomalous response to intravenous fructose.
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.
Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.
Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients.
Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.
Adenylosuccinate lyase deficiency and disorders of saccharide metabolism; experience with combined screening test.
Adenylosuccinate lyase deficiency in a Czech girl and two siblings.
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.
Adenylosuccinate lyase deficiency.
Adenylosuccinate lyase deficiency: an update.
Adenylosuccinate lyase deficiency: from the clinics to molecular biology.
Adenylosuccinate lyase deficiency: study of physiopathologic mechanism(s).
Adenylosuccinate lyase deficiency: the first identified polish patient.
Adenylosuccinate Synthetase and Adenylosuccinate Lyase Deficiencies Trigger Growth and Infectivity Deficits in Leishmania donovani.
ADSL Deficiency - The Lesser-Known Metabolic Epilepsy in Infancy.
Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man.
Analysis of aminoimidazole ribosides by capillary electrophoresis--diagnosing defects in second part of purine biosynthetic pathway.
Analysis of diagnostic metabolites by capillary electrophoresis-mass spectrometry.
Attenuated Adenylosuccinate Lyase Deficiency: A Report of One Case and a Review of the Literature.
Autism and adenylosuccinase deficiency.
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
Biochemical and molecular genetic correlation in adenylosuccinate lyase deficiency.
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis.
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders.
Capillary electrophoresis for screening of adenylosuccinate lyase deficiency.
Cerebrospinal fluid as a tool in the diagnosis of neurometabolic diseases: amino acid analysis before and after acid hydrolysis.
Characterization of a mutant Bacillus subtilis adenylosuccinate lyase equivalent to a mutant enzyme found in human adenylosuccinate lyase deficiency: asparagine 276 plays an important structural role.
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.
D: -Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect.
Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity.
Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles.
Determination, activity and biological role of adenylosuccinate lyase in blood cells.
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines.
Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method.
Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency.
Effect of uridine administration to a patient with adenylosuccinate lyase deficiency.
Failure of muscle energy metabolism in a patient with adenylosuccinate lyase deficiency. An in vivo study by phosphorus NMR spectroscopy.
First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia.
Functional studies in fibroblasts of adenylosuccinase-deficient children.
Genetic basis of adenylosuccinase deficiency in an Italian patient.
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.
Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.
Inherited defects of purine and pyrimidine metabolism: laboratory methods for diagnosis.
Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.
Isolated Neonatal Seizures: Adenylosuccinase Deficiency is Another Cause!
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families.
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.
Metabolic approaches to the treatment of autism spectrum disorders.
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency.
MRI findings of hypomyelination in adenylosuccinate lyase deficiency.
Muscle energy metabolism in human adenylosuccinase deficiency. An in vivo 31P-NMR spectroscopy study.
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.
Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.
Neurologic aspects of adenylosuccinate lyase deficiency.
Neurological Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency.
Novel features in the evolution of adenylosuccinate lyase deficiency.
Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines.
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
Pathways for alpha-D-ribose utilization for nucleobase salvage and 5-fluorouracil activation in rat brain.
Prenatal diagnosis in adenylosuccinate lyase deficiency.
Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency.
Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data.
Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine.
Radiochemical assay of adenylosuccinase: demonstration of parallel loss of activity toward both adenylosuccinate and succinylaminoimidazole carboxamide ribotide in liver of patients with the enzyme defect.
Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips.
Regional brain glucose utilization in adenylosuccinase-deficient patients measured by positron emission tomography.
Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features.
Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.
Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.
Specific genetic disorders and autism: clinical contribution towards their identification.
The characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase deficiencies.
The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.
The purine nucleotide cycle and its molecular defects.
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
Treatment of Lesch-Nyhan disease with S-adenosylmethionine: Experience with five young Malaysians, including a girl.
Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry.
Urine test for adenylosuccinase deficiency in autistic children.
Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype.
[Adenylosuccinase deficiency]
[Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure]
Alkaptonuria
Analysis of diagnostic metabolites by capillary electrophoresis-mass spectrometry.
amidase deficiency
Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry.
Angelman Syndrome
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
Specific genetic disorders and autism: clinical contribution towards their identification.
Brain Diseases
Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features.
ADSL Deficiency - The Lesser-Known Metabolic Epilepsy in Infancy.
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients.
Breast Neoplasms
Adenylosuccinate lyase hydroxylation contributes to triple negative breast cancer via the activation of cMYC.
Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer.
Carcinoma, Ehrlich Tumor
The cleavage of adenylosuccinate and 5-amino-4-imidazole-N-succino-carboxamide ribonucleotide by an adenylosuccinate lyase from Ehrlich ascites tumor cells.
Carcinoma, Hepatocellular
A comparison of hepatic adenylosuccinate lyase from rats fed either a chow diet or a semisynthetic basal diet low in riboflavin.
Enzymes of purine metabolism in cancer.
Increased adenylosuccinase activity in hepatomas and kidney tumors.
Colorectal Neoplasms
Adenylosuccinate lyase is oncogenic in colorectal cancer by causing mitochondrial dysfunction and independent activation of NRF2 and mTOR-MYC-axis.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
[Orientation of mental retardation from neurometabolic diseases.]
Cystinuria
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders.
Dandy-Walker Syndrome
Cerebellar hypoplasia: differential diagnosis and diagnostic approach.
Diabetes Mellitus, Experimental
Effect of diet on adenylosuccinase activity in various organs of rat and chicken.
dihydropyrimidinase deficiency
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
Metabolic approaches to the treatment of autism spectrum disorders.
Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips.
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
Dihydropyrimidine Dehydrogenase Deficiency
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
Metabolic approaches to the treatment of autism spectrum disorders.
Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips.
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
Down Syndrome
Specific genetic disorders and autism: clinical contribution towards their identification.
Endometrial Neoplasms
Adenylosuccinate lyase enhances aggressiveness of endometrial cancer by increasing killer cell lectin-like receptor C3 expression by fumarate.
Epilepsy
Adenylosuccinase deficiency presenting with epilepsy in early infancy.
Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.
Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency.
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
Neurological Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency.
Regulation of purine metabolism connects KCTD13 to a metabolic disorder with autistic features.
[Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure]
gamma-glutamyltransferase deficiency
Analysis of diagnostic metabolites by capillary electrophoresis-mass spectrometry.
Genetic Diseases, Inborn
MRI findings of hypomyelination in adenylosuccinate lyase deficiency.
Specific genetic disorders and autism: clinical contribution towards their identification.
Glioma
Nucleotide-metabolism and chromosome alterations in human-malignant melanoma xenografts.
glutathione synthase deficiency
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders.
Gout
[Metabolism of purine nucleotides and the production of uric acid]
Gyrate Atrophy
Analysis of diagnostic metabolites by capillary electrophoresis-mass spectrometry.
Homocystinuria
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders.
[Orientation of mental retardation from neurometabolic diseases.]
hypoxanthine phosphoribosyltransferase deficiency
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
Infections
Structural and kinetic studies on adenylosuccinate lyase from Mycobacterium smegmatis and Mycobacterium tuberculosis provide new insights on the catalytic residues of the enzyme.
Understanding the structural insights of enzymatic conformations for adenylosuccinate lyase receptor in malarial parasite Plasmodium falciparum.
Intellectual Disability
A mutation in adenylosuccinate lyase associated with mental retardation and autistic features.
Determination, activity and biological role of adenylosuccinate lyase in blood cells.
Is ZMP the toxic metabolite in Lesch-Nyhan disease?
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
The structure of adenylosuccinate lyase, an enzyme with dual activity in the de novo purine biosynthetic pathway.
Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry.
Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype.
Leukemia
Arylsulfatase B in Kurloff cells: increased activity of anionic isoforms in guinea pig acute lymphoblastic leukemia.
Liver Neoplasms
Targeting the De Novo Purine Synthesis Pathway Through Adenylosuccinate Lyase Depletion Impairs Liver Cancer Growth by Perturbing Mitochondrial Function.
Liver Neoplasms, Experimental
Potential inhibitors of L-asparagine biosynthesis. 3. Aromatic sulfonyl fluoride analogs of L-asparagine and L-glutamine.
Malaria
Phylogenetic analysis of the genus Plasmodium based on the gene encoding adenylosuccinate lyase.
Plasmodium falciparum: Genetic diversity and complexity of infections in an isolated village in western Thailand.
Melanoma
Nucleotide-metabolism and chromosome alterations in human-malignant melanoma xenografts.
Metabolic Diseases
In vitro hybridization and separation of hybrids of human adenylosuccinate lyase from wild-type and disease-associated mutant enzymes.
Metabolism, Inborn Errors
[The contribution made by genetics and neurometabolic studies to the diagnosis of mental retardation.]
Microcephaly
Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.
Movement Disorders
Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.
Mucopolysaccharidosis III
Specific genetic disorders and autism: clinical contribution towards their identification.
Muscle Cramp
Enzymes of the purine nucleotide cycle in muscle of patients with exercise intolerance.
Muscle Hypotonia
First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia.
MRI findings of hypomyelination in adenylosuccinate lyase deficiency.
Muscular Diseases
Enzymes of the purine nucleotide cycle in muscle of patients with exercise intolerance.
Muscular Dystrophies
Adenylosuccinase in human muscular dystrophy.
Neoplasms
Adenylosuccinate lyase as an indicator of breast and prostate malignancies: a preliminary report.
Determinants of the toxicity of L-alanosine to various organs of the mouse.
Determination of p185 and adenylosuccinate lyase (ASL) activity in preneoplastic colon lesions and intestinal mucosa of human subjects.
Increased adenylosuccinase activity in hepatomas and kidney tumors.
The cleavage of adenylosuccinate and 5-amino-4-imidazole-N-succino-carboxamide ribonucleotide by an adenylosuccinate lyase from Ehrlich ascites tumor cells.
Neurologic Manifestations
Pediatric neurological syndromes and inborn errors of purine metabolism.
Neuromuscular Diseases
Adenylosuccinase in human muscular dystrophy.
Neuronal Ceroid-Lipofuscinoses
Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis.
ornithine carbamoyltransferase deficiency
Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips.
Ornithine Carbamoyltransferase Deficiency Disease
Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips.
Phenylketonurias
Metabolic approaches to the treatment of autism spectrum disorders.
Specific genetic disorders and autism: clinical contribution towards their identification.
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.
Primary Immunodeficiency Diseases
Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry.
Prostatic Neoplasms
Carcinogenic effect of adenylosuccinate lyase (ADSL) in prostate cancer development and progression through the cell cycle pathway.
Determination of p185 and adenylosuccinate lyase (ASL) activity in preneoplastic colon lesions and intestinal mucosa of human subjects.
purine-nucleoside phosphorylase deficiency
Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips.
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
ribose-phosphate diphosphokinase deficiency
Metabolic approaches to the treatment of autism spectrum disorders.
Schistosomiasis
Investigating Immunization With Nucleotide Enzymes of Schistosoma mansoni: Nucleoside Diphosphate Kinase and Adenylosuccinate Lyase as New Antigenic Targets Against Schistosomiasis.
Seizures
Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death.
Isolated Neonatal Seizures: Adenylosuccinase Deficiency is Another Cause!
MRI findings of hypomyelination in adenylosuccinate lyase deficiency.
Neurological Presentation, Diagnostics, and Therapeutic Insights in a Severe Case of Adenylosuccinate Lyase Deficiency.
[Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure]
Smith-Lemli-Opitz Syndrome
Cerebellar hypoplasia: differential diagnosis and diagnostic approach.
Smith-Magenis Syndrome
Specific genetic disorders and autism: clinical contribution towards their identification.
Starvation
Effect of diet on adenylosuccinase activity in various organs of rat and chicken.
Food deprivation decreases the exertion-induced acid hydrolase response in mouse skeletal muscle.
Tremor
Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency.
Triple Negative Breast Neoplasms
Adenylosuccinate lyase hydroxylation contributes to triple negative breast cancer via the activation of cMYC.
Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer.
Trisomy 13 Syndrome
Cerebellar hypoplasia: differential diagnosis and diagnostic approach.
Tuberculosis, Meningeal
Nucleotide degradation products in cerebrospinal fluid (CSF) in inherited and acquired pathologies.
Tuberous Sclerosis
Specific genetic disorders and autism: clinical contribution towards their identification.
Urea Cycle Disorders, Inborn
[Orientation of mental retardation from neurometabolic diseases.]
[The contribution made by genetics and neurometabolic studies to the diagnosis of mental retardation.]
Urolithiasis
Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry.
xanthine dehydrogenase deficiency
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.