Also found in: Acronyms.
ALDH5A1A gene on chromosome 6p22 that encodes mitochondrial matrix NAD-dependent succinic semialdehyde dehydrogenase, of the aldehyde dehydrogenase family of proteins.
ALDH5A1 mutation causes 4-hydroxybutyricaciduria, which, due to an inability to metabolise GABA, results in accumulation of GHB, a neuromodulator.
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