Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 1/2. Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 2/2.
Involvement in disease
Defects in ALDH18A1 are the cause of mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]. Clinical manifestations include microcephaly, progressive neurologic dysfunction, mental retardation, progeroid appearance, joint hypermobility, skin laxity and hyperelasticity, cataracts. Some patients manifest metabolic disturbances such as hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia.
In the N-terminal section; belongs to the glutamate 5-kinase family. In the C-terminal section; belongs to the gamma-glutamyl phosphate reductase family.