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单词 Canavan disease
释义

Canavan disease

英语百科

Canavan disease

Canavan disease has an autosomal recessive pattern of inheritance.

Canavan disease, also called Canavan-Van Bogaert-Bertrand disease is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain, and 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 a 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.

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更新时间:2025/6/21 7:11:09