CYTOCHROME-C-OXIDASE DEFICIENCY AND LONG-CHAIN ACYL COENZYME-A DEHYDROGENASE-DEFICIENCY WITH LEIGHS SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY

被引：18

作者：

REICHMANN, H

SCHEEL, H

BIER, B

KETELSEN, UP

ZABRANSKY, S

机构：

[1] UNIV HOMBURG,DEPT PEDIAT,W-6650 HOMBURG,GERMANY

[2] UNIV HOMBURG,DEPT PATHOL,W-6650 HOMBURG,GERMANY

[3] UNIV FREIBURG,DEPT PEDIAT,W-7800 FREIBURG,GERMANY

来源：

ANNALS OF NEUROLOGY | 1992年 / 31卷 / 01期

关键词：

D O I：

10.1002/ana.410310120

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A female infant was seen at the age of 2 months because of hypotonia, delayed motor development, and lactic acidosis, and she died at age 13 months due to respiratory failure. In a muscle specimen taken at 11 months and in a liver specimen obtained 1.5 hours postmortem, we found decreased activities of cytochrome c oxidase and long-chain acyl coenzyme A dehydrogenase. Neuropathological changes were typical for Leigh's subacute necrotizing encephalomyelopathy. To our knowledge, this is the first report of a combined defect of complex IV of the respiratory chain and of the long-chain specific acyl coenzyme A dehydrogenase of beta-oxidation in muscle and liver.

引用

页码：107 / 109

页数：3

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