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
Displaying all 3 entries
Gene ID Gene Symbol Description Source
219 ALDH1B1 aldehyde dehydrogenase 1 family member B1
2822 GPLD1 glycosylphosphatidylinositol specific phospholipase D1
7915 ALDH5A1 aldehyde dehydrogenase 5 family member A1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 32 in total
HPO ID HPO Term
HP:0000739 Anxiety
HP:0002188 Delayed CNS myelination
HP:0000709 Psychosis
HP:0003621 Juvenile onset
HP:0001250 Seizure
HP:0000496 Abnormality of eye movement
HP:0001272 Cerebellar atrophy
HP:0002487 Hyperkinetic movements
HP:0000752 Hyperactivity
HP:0011463 Childhood onset
Displaying 1 entry
Gene ID Gene Symbol Description
7915 ALDH5A1 aldehyde dehydrogenase 5 family member A1

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024