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单词 Cholesteryl ester storage disease
释义

Cholesteryl ester storage disease

英语百科

Lysosomal acid lipase deficiency

(重定向自Cholesteryl ester storage disease)
Wolman disease has an autosomal recessive pattern of inheritance.

Lysosomal acid lipase deficiency (or LAL deficiency or LAL-D) happens when the body does not produce enough active lysosomal acid lipase (LAL or LIPA) enzyme. This enzyme plays an important role in breaking down fatty material (cholesteryl esters and triglycerides) in the body. Infants, children and adults that suffer from LAL Deficiency experience a range of serious health problems. The lack of the LAL enzyme can lead to a build-up of fatty material in a number of body organs including the liver, spleen, gut, in the wall of blood vessels and other important organs.

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更新时间:2025/6/18 21:33:27