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Neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay
Canavan disease, or Canavan–Van Bogaert–Bertrand disease, is a rare and fatal autosomal recessive degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain. It is one of the most common degenerative cerebral diseases of infancy. It is caused by a deficiency of the enzyme aminoacylase 2, and is one of a group of genetic diseases referred to as leukodys... Wikipedia