CONGENITAL LACTICACIDEMIA CAUSED BY LIPOAMIDE DEHYDROGENASE-DEFICIENCY WITH FAVORABLE OUTCOME

被引：27

作者：

ELPELEG, ON

RUITENBEEK, W

JAKOBS, C

BARASH, V

DEVIVO, DC

AMIR, N

机构：

[1] SHAARE ZEDEK MED CTR, NEUROPEDIAT UNIT, IL-91031 JERUSALEM, ISRAEL

[2] UNIV NIJMEGEN HOSP, DEPT PEDIAT, 6500 HB NIJMEGEN, NETHERLANDS

[3] FREE UNIV AMSTERDAM HOSP, DEPT PEDIAT, 1081 HV AMSTERDAM, NETHERLANDS

[4] HADASSAH MED CTR, DEPT CLIN BIOCHEM, IL-91120 JERUSALEM, ISRAEL

[5] COLUMBIA PRESBYTERIAN MED CTR, DEPT NEUROL, NEW YORK, NY 10032 USA

来源：

JOURNAL OF PEDIATRICS | 1995年 / 126卷 / 01期

关键词：

D O I：

10.1016/S0022-3476(95)70506-6

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A 5-year-old boy had recurrent vomiting and lethargy with lacticacidemia and ketoacidemia since birth, Lipoamide dehydrogenase deficiency was found in muscle and fibroblasts, Therapy with sodium dichloroacetate, thiamine, and carnitine was associated with reduction of the severity and frequency of the decompensation episodes and near normal plasma lactate levels, At 5 years of age, the patient has normal cognitive function and moderate motor impairment,

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页码：72 / 74

页数：3

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