Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence

被引：29

作者：

Miyajima, H

Orii, KE

Shindo, Y

Hashimoto, T

Shinka, T

Kuhara, T

Matsumoto, I

Shimizu, H

Kaneko, E

机构：

[1] SHINSHU UNIV, SCH MED, DEPT BIOCHEM, MATSUMOTO, NAGANO 390, JAPAN

[2] KANAZAWA MED UNIV, INST MED RES, DIV HUMAN GENET, KANAZAWA, ISHIKAWA, JAPAN

来源：

NEUROLOGY | 1997年 / 49卷 / 03期

关键词：

D O I：

10.1212/WNL.49.3.833

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 23-year-old man with recurrent myoglobinuria had low muscle-free carnitine levels and deficient fasting ketogenesis. Urinary organic acid analysis showed large amounts of C-6-C-14 3-hydroxydicarboxylic acids. Mitochondrial trifunctional protein (TP), harboring long-chain enoyl-coenzyme A (CoA) hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase showed markedly decreased activity in fibroblasts. On immunoblot analysis, the TP content of his fibroblasts was less than 2% that of the control cells. TP deficiency can be a life-threatening disorder with early infantile onset, but it can also present in adolescence with recurrent myoglobinuria.

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页码：833 / 837

页数：5

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