单词 | Canavan disease |
释义 | Canavan diseasenoun Can·a·van disease ˈka-nə-ˌvan- variants or less commonly ˈka-nə-ˌvanz- : a rare, usually fatal, demyelinating disease of infancy that is characterized by spongy degeneration of the brain caused by an enzyme deficiency and that typically affects individuals of eastern European Jewish ancestry … was diagnosed before he turned 5 months old with Canavan disease—a rare neurological disorder in which genes don't produce the protective myelin in the brain, causing the brain's white matter to degenerate into spongy tissue riddled with microscopic fluid-filled spaces. Burt Constable Note: Canavan disease is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome. |
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