PHGDH and hereditary disease: Recent genetic study also identified two missense mutations in PHGDH that are associated with Neu‐Laxova syndrome 1 (NLS1 [MIM 256520]) 33, an autosomal‐recessive genetic disorder characterized by intrauterine growth retardation, severe malformation of multiple organs particularly the central nervous system and skin, and perinatal or early postnatal death.