A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype

被引：36

作者：

Morris, AAM

Olpin, SE

Brivet, M

Turnbull, DM

Jones, RAK

Leonard, JV

机构：

[1] Inst Child Hlth, London, England

[2] Sheffield Childrens Hosp, Sheffield, S Yorkshire, England

[3] Hop Bicetre, Biochim Lab, Le Kremlin Bicetre, France

[4] Univ Newcastle Upon Tyne, Div Clin Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[5] Wexham Pk Hosp, Slough SL2 4HL, Berks, England

来源：

JOURNAL OF PEDIATRICS | 1998年 / 132卷 / 03期

关键词：

D O I：

10.1016/S0022-3476(98)70030-7

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Carnitine-acylcarnitine translocase deficiency, a rare beta-oxidation defect, is manifest in most cases by cardiomyopathy and death in early childhood. We report an affected patient, 3 years of age, who has had no serious complications. The residual enzyme activity in fibroblasts was higher than in previously reported patients, which may explain the benign clinical course.

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收藏

页码：514 / 516

页数：3

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