ACY2 Deficiency
ACY2 Deficiency Definition
ACY2 deficiency is a genetic disorder that features a spongy degeneration of the central nervous system. The signs that indicate the onset of the disease begin at infancy, usually characterized by progressive mental decline and rapid loss of head control, balance and coordination. Patients with the disease have an abnormally large head due to swelling. This disease is caused by an abnormal mutation in the ASPA gene that makes the cells unable to produce an important enzyme for brain and muscle development, aspartocylase.