ALDH5A1 belongs to the aldehyde dehydrogenase family of proteins. This protein functions as a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties.

HUMAN

2-8°C (short-term); -20°C (long-term)