PROPIONATE METABOLISM IN CELLS CULTURED FROM A PATIENT WITH METHYLMALONIC ACIDEMIA

被引：26

作者：

MORROW, G

MELLMAN, WJ

BARNESS, LA

DIMITROV, NV

机构：

[1] Departments of Pediatrics and Medical Genetics, University of Pennsylvania School of Medicine, Departments of Medicine and Biochemistry, Hahnemann Medical College, Philadelphia, PA

来源：

PEDIATRIC RESEARCH | 1969年 / 3卷 / 03期

关键词：

Cell culture; Citric acid cycle; Fibroblasts; Methylmalonic acid; Propionate; Succinate;

D O I：

10.1203/00006450-196905000-00005

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Extract:Propionate metabolism in human skin fibroblasts was studied in cells from three controls and one patient with methylmalonic acidemia. In the control cells, propionate-2-14C was metabolized to succinate and thence into the citric acid cycle, as indicated by the appearance of the C label in CO2, succinate, aspartate, and glutamate. The patient’s fibroblasts accumulated methylmalonate and failed to convert the C label as readily into CO2, aspartate, and glutamate. Speculation:Human skin fibroblasts cultured from a patient with methylmalonic acidemia offer an in vitro technique of pinpointing the defective site in this disorder. Furthermore, the kinetic properties of the mutant enzyme can be readily investigated. © International Pediatrics Research Foundation, Inc. 1969. All Rights Reserved.

引用

页码：217 / &

共 9 条

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