3-METHYLGLUTACONIC ACIDURIA ASSOCIATED WITH PEARSON SYNDROME AND RESPIRATORY-CHAIN DEFECTS

被引：46

作者：

GIBSON, KM

BENNETT, MJ

MIZE, CE

JAKOBS, C

ROTIG, A

MUNNICH, A

LICHTERKONECKI, U

TREFZ, FK

机构：

[1] UNIV TEXAS, SW MED CTR, DALLAS, TX 75230 USA

[2] FREE UNIV AMSTERDAM, DEPT PEDIAT, 1007 MC AMSTERDAM, NETHERLANDS

[3] HOP ENFANTS MALAD, INSERM, U12, UNITE RECH HANDICAPS GENET ENFANT, PARIS, FRANCE

[4] UNIV HEIDELBERG, KINDERKLIN, W-6900 HEIDELBERG, GERMANY

[5] BAYLOR UNIV, MED CTR, KIMBERLY H COURTWRIGHT & JOSEPH W SUMMERS METAB DI, DALLAS, TX USA

来源：

JOURNAL OF PEDIATRICS | 1992年 / 121卷 / 06期

关键词：

D O I：

10.1016/S0022-3476(05)80348-8

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

3-Methylglutaconic aciduria was detected in four patients with Pearson syndrome, a multitissue disorder with hematologic abnormalities, lactic acidosis resulting from defective oxidative phosphorylation, and deletions in the mitochondrial genome. 3-Methylglutaconic acid may be an additional useful marker for Pearson syndrome and may be a more specific marker than other organic acids identified in this disorder.

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收藏

页码：940 / 942

页数：3

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