Mevalonate kinase deficiency and autoinflammatory disorders.

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作   者：

Haas D;  Hoffmann GF; 

作者机构：

Department of General Pediatrics;  Heidelberg;  Germany.;  University Hospital for Pediatric and Adolescent Medicine;  Division of Inborn Metabolic Diseases; 

关键词：

Inborn Errors;  Mevalonic Acid;  磷酸转移酶类(醇族体);  代谢缺陷;  Bone Marrow Transplantation;  炎症;  Inflammation;  甲羟戊酸;  Metabolism;  骨髓移植;  先天性; 

期刊名称：

The New England journal of medicine

i s s n：

0028-4793

年卷期：

2007 年 356 卷 26 期

页   码：

2671-2673

页   码：

摘   要：

Adeficiency of mevalonate ki-nase resulting in mevalonic aciduria was the first inherited defect in cholesterol and non-sterol isoprene biosynthesis to be recognized. Nine other enzyme deficiencies have since been identified in the distal part of the cholesterol biosynthesis pathway. They are associated mainly with skeletal and organ malformations, skin abnormalities, and psychomotor retardation. Recently, two defects in the synthesis of coenzyme Q10 (also called ubiquinone) have been associated with disorders that clinically resemble abnormalities of mitochondrial energy metabolism.