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

More general terms

• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/271980