CYTOCHROME-C-OXIDASE DEFICIENCY IN MUSCLE WITH DICARBOXYLIC ACIDURIA AND RENAL TUBULAR-ACIDOSIS

被引：3
作者：
PINTOSMORELL, G
HAAS, R
PRODANOS, C
DIMAURO, S
NYHAN, WL
机构：
[1] UNIV CALIF SAN DIEGO,DEPT PEDIAT,M-009A,LA JOLLA,CA 92093
[2] UNIV CALIF SAN DIEGO,DEPT NEUROSCI,LA JOLLA,CA 92093
[3] COLUMBIA UNIV COLL PHYS & SURG,H HUSTON MERRITT CLIN RES CTR MUSCULAR DYSTROPHY & RELATED DIS,NEW YORK,NY 10032
来源：
JOURNAL OF CHILD NEUROLOGY | 1990年 / 5卷 / 02期
关键词：
D O I：
10.1177/088307389000500216
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A patient with deficient activity of cytochrome c oxidase in muscle presented at 1 year of age with extreme failure to thrive. He was found to have dicarboxylic aciduria, renal tubular acidosis, and deficiency of carnitine. Treatment with sodium bicarbonate, riboflavin, and carnitine led to considerable improvement in growth and a significant reduction in the dicarboxylic aciduria. (J Child Neurol 1990;5:147-152). © 1990, Sage Publications. All rights reserved.
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页码：147 / 152
页数：6
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