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 1 - 10 of 32 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
7915 ALDH5A1 aldehyde dehydrogenase 5 family member A1

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Last updated: August 19, 2024