Disease on EC 1.2.1.24 - succinate-semialdehyde dehydrogenase (NAD+)
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4-aminobutyrate-2-oxoglutarate transaminase deficiency
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
alcohol dehydrogenase deficiency
A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency.
alcohol dehydrogenase deficiency
Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
alcohol dehydrogenase deficiency
Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency.
alcohol dehydrogenase deficiency
Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.
alcohol dehydrogenase deficiency
Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.
alcohol dehydrogenase deficiency
Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations.
alcohol dehydrogenase deficiency
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.
alcohol dehydrogenase deficiency
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.
Carcinoma, Intraductal, Noninfiltrating
RNA-Seq of human breast ductal carcinoma in situ models reveals aldehyde dehydrogenase isoform 5A1 as a novel potential target.
Cerebral Palsy
Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
Epilepsy
Polymorphisms of ABAT, SCN2A and ALDH5A1 may affect valproic acid responses in the treatment of epilepsy in Chinese.
Epilepsy, Generalized
Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity.
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.
Ischemic Stroke
Metabolic Or Ischemic Stroke in Succinic Semi-Aldehyde Dehydrogenase Deficiency Due to the Homozygous Variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1.
Ischemic Stroke
Metabolic or Ischemic Stroke in Succinic Semi-aldehyde Dehydrogenase Deficiency Due to the Homozygous Variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1.
Metabolic Diseases
Polymorphisms of human aldehyde dehydrogenases. Consequences for drug metabolism and disease.
Muscle Hypotonia
Novel mutations in a Chinese family with two patients with succinic semialdehyde dehydrogenase deficiency.
Neoplasm Metastasis
ALDH5A1 acts as a tumour promoter and has a prognostic impact in papillary thyroid carcinoma.
Neoplasms
ALDH5A1 acts as a tumour promoter and has a prognostic impact in papillary thyroid carcinoma.
Neurodegenerative Diseases
Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
Ovarian Neoplasms
Decreased expression of ALDH5A1 predicts prognosis in patients with ovarian cancer.
Rett Syndrome
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
Seizures
Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.
Seizures
Gene expression analysis in epileptic hippocampi reveals a promoter haplotype conferring reduced aldehyde dehydrogenase 5a1 expression and responsiveness.
Seizures
Liver-directed adenoviral gene transfer in murine succinate semialdehyde dehydrogenase deficiency.
Seizures
Novel mutations in a Chinese family with two patients with succinic semialdehyde dehydrogenase deficiency.
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
Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
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
Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic 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
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
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 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: 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
[Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency].
Thyroid Cancer, Papillary
ALDH5A1 acts as a tumour promoter and has a prognostic impact in papillary thyroid carcinoma.
Zika Virus Infection
Determination of system level alterations in host transcriptome due to Zika virus (ZIKV) Infection in retinal pigment epithelium.
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