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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Hyperglycerolemia ： ウィキペディア英語版 Hyperglycerolemia Hyperglycerolemia, also known as Glycerol kinase deficiency (GKD), is a genetic disorder where the enzyme glycerol kinase is deficient resulting in a build-up of glycerol in the body. Glycerol kinase is responsible for synthesizing triglycerides and glycerophospholipids in the body. Excess amounts of glycerol can be found in the blood and/ or urine. Hyperglycerolmia occurs more frequently in males. Hyperglycerolemia is listed as a “rare disease” by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH), which means it affects less than 200,000 people in the US population (U.S. Department of Health & Human Services). ==Mechanism== Hyperglycerolemia or Glycerol kinase deficiency, is caused by a rare X-linked recessive genetic disorder caused by mutations or a deletion in the glycerol kinase gene. The glycerol kinase gene is located on the locus Xp21.3 of the X chromosome between base pairs 30,653,358 to 30,731,461. 〔Genetics Home Reference (n.d.), GK. Retrieved from http://ghr.nlm.nih.gov/gene/GK〕 Glycerol kinase catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate.〔Glycerol Kinase (n.d.). Retrieved from http://omim.org/entry/300474〕 It is more common in males because they only have one chromosome where females rarely get the disease because they have two X chromosomes. If Hyperglycerolemia is caused by a mutation in the glycerol kinase gene, it generally causes an isolated enzyme deficiency of the enzyme glycerol kinase. This can result in the human body not being able to synthesize triglycerides and glycerophospholipids. If Hyperglycerolemia results from a deletion of the glycerol kinase gene, it has been shown to be a part of a contiguous gene deletion syndrome with association of Duchenne muscular dystrophy and adrenal hypoplasia congenita.〔Huq, A. M., Lovell, R. S., Ou, C. N., Beaudet, A. L., & Craigen, W. J. (1997). X-linked glycerol 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Hyperglycerolemia」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.