Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria

被引：22

作者：

Minetti, C

Garavaglia, B

Bado, M

Invernizzi, F

Bruno, C

Rimoldi, M

Pons, R

Taroni, F

Cordone, G

机构：

[1] Univ Genova, Dept Paediat, Muscle Dis Serv, Ist Giannina Gaslini, I-16147 Genoa, Italy

[2] Ist Nazl Neurol C Besta, Dept Biochem & Genet, Milano, Italy

[3] Ist Nazl Neurol C Besta, Lab Cellular Pathol, Milano, Italy

来源：

NEUROMUSCULAR DISORDERS | 1998年 / 8卷 / 01期

关键词：

very-long-chain acyl-coenzyme A dehydrogenase; myoglobinuria; fatty-acid beta-oxidation;

D O I：

10.1016/S0960-8966(97)00121-1

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 9-year-old boy had recurrent episodes of myoglobinuria and normal urinary organic acid profile. Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency was detected biochemically in cultured skin fibroblasts and confirmed by Western blot analysis. The patient had a distinctive plasma fatty-acid profile, which was present even between attacks. Early diagnosis of this disorder is important because of the apparently protective effect of an appropriate dietary regimen. (C) 1998 Elsevier Science B.V.

引用

页码：3 / 6

页数：4

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