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| Mevalonic aciduria ： ウィキペディア英語版 |
Mevalonate kinase deficiency
Mevalonate kinase deficiency, also called mevalonic aciduria, is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.
==Diagnosis==
Mevalonate kinase deficiency causes an accumulation of mevalonic acid in the urine, resulting from insufficient activity of the enzyme mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36).
The disorder was first described in 1985.
Classified as an inborn error of metabolism, mevalonate kinase deficiency usually results in developmental delay, hypotonia, anemia, hepatosplenomegaly, various dysmorphic features, mental retardation, an overall failure to thrive and several other features.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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