ORPHA:22
Succinic semialdehyde dehydrogenase deficiency
Synonyms: 4-hydroxybutyric aciduria · Gamma-hydroxybutyric aciduria · SSADH deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Succinic semialdehyde dehydrogenase deficiency | 4-hydroxybutyric aciduria · Gamma-hydroxybutyric aciduria · SSADH deficiency |
| fr | Déficit en succinate-semi-aldéhyde déshydrogénase | Acidurie 4-hydroxybutyrique · Acidurie gamma-hydroxybutyrique · Déficit en SSADH |
| de | Succinat-Semialdehyd-Dehydrogenase-Mangel | 4-Hydroxybutyrazidurie · Bernsteinsäure-Semialdehyd-Dehydrogenase-Mangel · Gamma-Hydroxybutyrazidurie · SSADH-Mangel |
| es | Deficiencia de semialdehído succínico deshidrogenasa | Aciduria 4 hidroxibutírica · Aciduria gamma-hidroxibutírica · Deficiencia de SSADH |
| it | Deficit di succinico semialdeide deidrogenasi | Aciduria 4-idrossibutirrica · Aciduria gamma-idrossibutirrica · Deficit di SSADH |
| nl | Succinyl-semialdehyde-dehydrogenasedeficiëntie | 4-hydroxyboterzuuracidurie · Barnsteenzuur-semialdehyde-dehydrogenasedeficiëntie · GHB-acidurie · Gamma-hydroxyboterzuuracidurie · SSADH-deficiëntie |
| pt | Deficiência de semialdeído succínico desidrogenase | Acidúria 4-hidroxibutírica |
| pl | Kwasica 4-hydroksymasłowa | Niedobór dehydrogenazy semialdehydu bursztynowego |
| cs | Deficit sukcinátsemialdehyddehydrogenázy | 4-hydroxybutyrátová acidurie · Gama-hydroxybutyrátová acidurie · Deficit SSAHD |
| uk | Дефіцит бурштинової напівальдегід дегідрогенази | 4-гідроксимасляна ацидурія · Гамма-гідроксимасляна ацидурія · Дефіцит SSADH |
| zh | 琥珀酸半醛脱氢酶缺乏症 | γ-羟丁酸尿症 |
| tr | Süksinik semialdehit dehidrojenaz eksikliği | SSADH eksikliği · 4-hidroksibütirik asidüri · Gama-hidroksibütirik asidüri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271980 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.E1 | NTBT | index | validated |
| MONDO | 0010083 | E | validated | |
| MeSH | C535803 | E | validated | |
| UMLS | C0268631 | E | validated | |
| GARD | 7695 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:79175Disorder of gamma-aminobutyric acid metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:225707Metabolic neurotransmission anomaly with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALDH5A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:408 | ENSG00000112294 | 610045 | 6p22.3 | aldehyde dehydrogenase 5 family member A1 | 20301374[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 450 cases | Worldwide | Case(s) | Validated | 20301374[PMID] | |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Worldwide | Value and class | Validated | 34882073[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0001251 | Ataxia | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002133 | Status epilepticus | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/22
- This record as JSON: /data/d/22.json