D2I2.
genetic

Canavan disease

Canavan disease, or Canavan–Van Bogaert–Bertrand disease, is a rare and fatal 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 diseases of infancy. It is caused by a of the aspartoacylase, and is one of a group of diseases referred to as leukodystrophies. It is characterized by of myelin in the phospholipid layer insulating the axon of a neuron and is associated with a gene located on human 17.

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Plain-language summary adapted from Wikipedia. Not medical advice.