期刊
MOLECULAR GENETICS AND METABOLISM
卷 82, 期 1, 页码 59-63出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2004.02.004
关键词
fatty acid oxidation; hypoglycemia; hypoketosis; mitochondrial transport; carnitine cycle defects; CPT1A; liver CPT I deficiency; inborn errors of metabolism
Liver carnitine palmitoyltransferase I (CPTI) deficiency is a rare disorder of hepatic initochondrial long-chain fatty acid oxidation. It characteristically presents with symptoms associated with failure of ketogenesis (hypoketotic hypoglycemia). The disorder is due to mutations in the CPT1A gene for which few patients have been characterized. We present here four novel Mutations in five patients from four families with severe enzyme deficiency. Three of these are missense Mutations (G465W, R316G, and F343V) and the fourth a nonsense mutation (R160X). Other than small limit and Hutterite Populations in Canada and the Northern plains, there is complete heterogeneity of disease-causing mutations within CPT I deficient families with each demonstrating unique mutations. Because there are no easily recognizable disease-specific metabolite markers, diagnostic confirmation of this disorder requires a combination of enzymatic analysis and whole gene sequencing. (C) 2004 Elsevier Inc. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据