METHYLMALONIC ACIDURIA DUE TO A NEW DEFECT IN ADENOSYLCOBALAMIN ACCUMULATION BY CELLS

被引：13

作者：

COOPER, BA

ROSENBLATT, DS

WATKINS, D

机构：

[1] ROYAL VICTORIA HOSP,DIV MED GENET,MONTREAL H3A 1A1,QUEBEC,CANADA

[2] MCGILL UNIV,DEPT MED,MONTREAL H3A 2T5,QUEBEC,CANADA

[3] MCGILL UNIV,DEPT PHYSIOL,MONTREAL H3A 2T5,QUEBEC,CANADA

[4] MCGILL UNIV,DEPT BIOL,MONTREAL H3A 2T5,QUEBEC,CANADA

[5] MCGILL UNIV,DEPT PEDIAT,MONTREAL H3A 2T5,QUEBEC,CANADA

[6] MCGILL UNIV,MRC,GENET GRP,MONTREAL H3A 2T5,QUEBEC,CANADA

来源：

AMERICAN JOURNAL OF HEMATOLOGY | 1990年 / 34卷 / 02期

关键词：

cblA; inherited defect; vitamin B[!sub]12[!/sub;

D O I：

10.1002/ajh.2830340207

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A child with methylmalonic aciduria due to failure to accumulate adocbl in mitochondria has a phenotype similar to cblA disease. Deficient utilization of labeled propionate by his fibroblasts is corrected by their fusion with those from cblA patients, indicating that he belongs to a different complementation class and probably is deficient in a different gene product. The defect appears not to be due to reduced affinity of enzymes for adocbl, or for ATP, and the minimal thiol required for adocbl synthesis is not different from that of extracts of normal cells. Copyright © 1990 Wiley‐Liss, Inc., A Wiley Company

引用

页码：115 / 120

页数：6

共 26 条

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