ALDH18A1

ALDH18A1, also known as aldehyde dehydrogenase 18 family member A1, has alternative names including GSAS, P5CS, PYCS, SPG9, ADCL3, SPG9A, SPG9B, and ARCL3A. ALDH18A1 is a bifunctional enzyme with γ-glutamyl kinase and γ-glutamyl phosphoribosyltransferase activity, relying on ATP and NADPH, primarily located in mitochondria. ALDH18A1 catalyzes the reduction of glutamate to δ-pyrrolo-5-carboxylic acid, a critical step in the biosynthesis of proline, ornithine, and arginine in new organisms. Mutations in ALDH18A1 can lead to hyperammonemia, ornithinemia, cystinemia, arginemia, and prolytosis, which may be associated with neurodegenerative diseases, cataracts, and connective tissue disorders.