Canavan disease

Canavan disease
Other names	Canavan–van Bogaert–Bertrand disease
Specialty	Endocrinology, neurology

Canavan disease, or Canavan–Van Bogaert–Bertrand disease, is a rare and fatal autosomal recessive^[1] degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain.^[2] It is one of the most common degenerative cerebral diseases of infancy.^[3] It is caused by a deficiency of the enzyme aminoacylase 2,^[4] and is one of a group of genetic diseases referred to as leukodystrophies. It is characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron and is associated with a gene located on human chromosome 17.