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词汇 Familial hyperchylomicronemia
分类 英语词汇 英语翻译词典
释义

Familial hyperchylomicronemia

英语百科

Lipoprotein lipase deficiency

(重定向自Familial hyperchylomicronemia)

Lipoprotein lipase deficiency (also known as "familial chylomicronemia syndrome", "chylomicronemia", "chylomicronemia syndrome" and "hyperlipoproteinemia type Ia") is a rare autosomal recessive lipid disorder caused by a mutation in the gene which codes lipoprotein lipase. As a result, afflicted individuals lack the ability to produce lipoprotein lipase enzymes necessary for effective breakdown of fatty acids.

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