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succinic semialdehyde dehydrogenase deficiency
Summary
- Synonym
-
- 4-hydroxybutyric aciduria
- SSADH
- gamma-hydroxybutyric aciduria
- Definition
- A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
- Super Class
- gamma-amino butyric acid metabolism disorder
External Links
- Disease Ontology
- DOID:0060175
- Mondo Disease Ontology
- MeSH
- OMIM
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P30837 | Aldehyde dehydrogenase X, mitochondrial | |
| P51649 | Succinate-semialdehyde dehydrogenase, mitochondrial | |
| P80108 | Phosphatidylinositol-glycan-specific phospholipase D |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001252 | Hypotonia |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0001249 | Intellectual disability |
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0000708 | Atypical behavior |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0001251 | Ataxia |
| HP:0002133 | Status epilepticus |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
