VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - IDENTIFICATION OF A NEW INBORN ERROR OF MITOCHONDRIAL FATTY-ACID OXIDATION IN FIBROBLASTS

被引：117

作者：

BERTRAND, C

LARGILLIERE, C

ZABOT, MT

MATHIEU, M

VIANEYSABAN, C

机构：

[1] HOP DEBROUSSE,CTR ETUD MALAD METAB,F-69005 LYON,FRANCE

[2] HOP CLAUDE HURIEZ,SERV PEDIAT & GENET MED,LILLE,FRANCE

来源：

BIOCHIMICA ET BIOPHYSICA ACTA | 1993年 / 1180卷 / 03期

关键词：

MITOCHONDRIAL FATTY ACID OXIDATION; INBORN ERROR; MITOCHONDRIAL VERY LONG CHAIN ACYL-COA DEHYDROGENASE; FIBROBLAST;

D O I：

10.1016/0925-4439(93)90058-9

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A patient highly suspected of long chain fatty acid oxidation defect was investigated for membrane-bound palmitoyl-CoA dehydrogenation in a membrane extract from skin fibroblasts, using 1% sodium cholate as detergent. The profoundly decreased activity observed is consistent with a deficiency of the newly identified mitochondrial 'very long chain acyl-CoA dehydrogenase'.

引用

页码：327 / 329

页数：3

共 5 条

[1] PURIFICATION OF ELECTRON-TRANSFER FLAVOPROTEIN FROM PIG-LIVER MITOCHONDRIA AND ITS APPLICATION TO THE DIAGNOSIS OF DEFICIENCIES OF ACYL-COA DEHYDROGENASES IN HUMAN FIBROBLASTS [J].

BERTRAND, C ;

DUMOULIN, R ;

DIVRY, P ;

MATHIEU, M ;

VIANEYSABAN, C .

CLINICA CHIMICA ACTA, 1992, 210 (1-2) :75-91

[2]

IZAI K, 1992, J BIOL CHEM, V267, P1027

[3]

SAUDUBRAY JM, 1992, NEW DEV FATTY ACID O, P271

[4]

STANLEY CA, 1992, NEW ENGL J MED, V319, P1331

[5]

VIANEYSABAN C, 1992, IN PRESS EUR J PEDIA

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