Succinic semialdehyde dehydrogenase deficiency

Preferred Label : Succinic semialdehyde dehydrogenase deficiency;

Symbol : SSADHD;

CISMeF acronym : SSADHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 4-hydroxybutyric aciduria; Gamma-hydroxybutyric aciduria; Gaba metabolic defect; Ssadh deficiency;

Description : Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurologic disorder in which an enzyme defect in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aldehyde dehydrogenase 5 family, member A1 gene (ALDH5A1, 610045.0001);

Laboratory abnormalities : Increased urinary excretion of gamma-aminobutyric acid (GABA); Increased urinary excretion of 4-hydroxybutyric acid (GHB); Increased CSF and plasma GABA; Increased CSF and plasma GHB; Decreased activity of succinic semialdehyde dehydrogenase (SSADH, ALDH5A1), less than 5% of control values;

Prefixed ID : #271980;

Details

Origin ID

271980;

UMLS CUI

C0268631;

Currated CISMeF NLP mapping
- 4-hydroxybutyric aciduria [ICD-11 More detail]
- Succinate-semialdehyde dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Succinic semialdehyde dehydrogenase deficiency [ORDO Disease]
- succinate-semialdehyde dehydrogenase deficiency [SNOMED Notion]
- succinic semialdehyde dehydrogenase deficiency [DO Concept]
- succinic semialdehyde dehydrogenase deficiency [MeSH concept]
- succinic semialdehyde dehydrogenase deficiency [MeSH Supplementary Concept]
DO Cross reference
- succinic semialdehyde dehydrogenase deficiency [DO Concept]
Genes related to phenotype
- Aldehyde dehydrogenase 5 family, member a1 [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Aggressive behavior [HPO term]
- Anxiety [HPO term]
- Ataxia [HPO term]
- Autism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebellar atrophy [HPO term]
- Childhood onset [HPO term]
- Decreased succinic semialdehyde dehydrogenase level [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed speech and language development [HPO term]
- EEG abnormality [HPO term]
- Elevated CSF 4-hydroxybutyric acid concentration [HPO term]
- Elevated CSF gamma-aminobutyric acid concentration [HPO term]
- Elevated circulating gamma-aminobutyric acid concentration [HPO term]
- Elevated circulating gamma-aminobutyric acid concentration [HPO term]
- Elevated urinary 4-hydroxybutyric acid [HPO term]
- Generalized hypotonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Hallucinations [HPO term]
- Hyperactivity [HPO term]
- Hyperkinetic movements [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Increased level of gamma-aminobutyric acid in urine [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Juvenile onset [HPO term]
- Motor delay [HPO term]
- Psychomotor retardation [HPO term]
- Psychosis [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Status epilepticus [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Succinic semialdehyde dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 4-hydroxybutyric aciduria [ICD-11 More detail]
- Succinate-semialdehyde dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Succinic semialdehyde dehydrogenase deficiency [ORDO Disease]
- succinate-semialdehyde dehydrogenase deficiency [SNOMED Notion]
- succinic semialdehyde dehydrogenase deficiency [MeSH Supplementary Concept]
- succinic semialdehyde dehydrogenase deficiency [MeSH concept]
- succinic semialdehyde dehydrogenase deficiency [DO Concept]

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