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4-hydroxybutyricaciduria
Epidemiology: rare
Pathology:
- accumulation of 4-hydroxybutyric acid in physiologic fluids
- inborn error of 4-aminobutyric acid (GABA) metabolism
Genetics:
- associated with defects in ALDH5A1 (succinate semialdehyde dehydrogenase)
Clinical manifestations:
- severe ataxia
- mildly retarded psychomotor development
Laboratory:
- urinalysis: 4-hydroxybutyricaciduria
General
inborn error of metabolism
Database Correlations
OMIM 271980
References
OMIM :accession 271980