CYTOCHROME-C-OXIDASE DEFICIENCY PRESENTING AS RECURRENT NEONATAL MYOGLOBINURIA

被引：26

作者：

SAUNIER, P

CHRETIEN, D

WOOD, C

ROTIG, A

BONNEFONT, JP

SAUDUBRAY, JM

RABIER, D

MUNNICH, A

RUSTIN, P

机构：

[1] HOP NECKER ENFANTS MALAD,INSERM,U393,DEPT PEDIAT,F-75743 PARIS 15,FRANCE

[2] CTR HOSP FONTAINEBLEAU,SERV PEDIAT,F-77000 FONTAINEBLEAU,FRANCE

[3] HOP NECKER ENFANTS MALAD,INSERM,U393,DEPT BIOL,F-75743 PARIS 15,FRANCE

[4] HOP NECKER ENFANTS MALAD,INSERM,U393,UNITE RECH HANDICAPS GENET ENFANT,F-75743 PARIS 15,FRANCE

[5] HOP ST VINCENT DE PAUL,SERV REANIMAT,F-75014 PARIS,FRANCE

来源：

NEUROMUSCULAR DISORDERS | 1995年 / 5卷 / 04期

关键词：

MITOCHONDRIA; CYTOCHROME; C OXIDASE; MYOGLOBINURIA;

D O I：

10.1016/0960-8966(94)00071-G

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Markedly reduced cytochrome c oxidase (COX) activity was found in cultured skin fibroblasts of an infant with recurrent episodes of acute myoglobinuria, hypertonia, muscle stiffness and elevated plasma levels of sarcoplasmic enzymes (creatine kinase 96950 U/l, normal below 150) since the age of 3 weeks (COX activity: 36 nmol/min/mg protein; normal 65-440; COX/succinate cytochrome c reductase ratio: 1.4, normal 3.0 +/- 0.4). The expression of the disease in cultured fibroblasts allowed us to carry out a prenatal diagnosis during the next pregnancy. Hitherto, mitochondrial respiratory chain deficiency has not been established as a cause of recurrent myoglobinuria in childhood. Since most cases of myoglobinurias remain poorly understood, we suggest giving consideration to respiratory chain deficiency in elucidating the origin of unexplained recurrent myoglobinuria in childhood, especially when seemingly unrelated symptoms are present.

引用

页码：285 / 289

页数：5

共 15 条

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