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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:0000718 | Aggressive behavior |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001270 | Motor delay |
| HP:0002353 | EEG abnormality |
| HP:0000750 | Delayed speech and language development |
| HP:0011462 | Young adult onset |
| HP:0000717 | Autism |
| HP:0002121 | Generalized non-motor (absence) seizure |
| HP:0100716 | Self-injurious behavior |
| HP:0000738 | Hallucinations |
