描述
Canavan Disease (Canavan-Van Bogaert-Bertrand Disease; Aminoacylase 2 Deficiency; Spongy Degeneration of the Central Nervous System; Aspartoacylase Deficiency; ASP Deficiency; ACY2 Deficiency; ASPA) is a rare autosomal recessive disease caused by a defect in the ASPA gene which codes for aspartoacylase. A deficiency in this enzyme results in accumulation of N-Acetyl-L-aspartic acid in plasma, spinal fluid, and urine. Symptoms, which present at birth, include myclonus, irritability, hypotonia, motor retardation, and poor head control. The neurological complications are due to demyelination of neurons and leukodystrophy. Premature death often results, though lithium citrate can be used as a treatment.