Respiratory chain complex in deficiency with pruritus: A novel vitamin responsive clinical feature

被引：18

作者：

Mowat, D

Kirby, DM

Kamath, KR

Kan, A

Thorburn, DR

Christodoulou, J

机构：

[1] Royal Alexandra Hosp Children, Western Sydney Genet Program, Westmead, NSW 2145, Australia

[2] Royal Alexandra Hosp Children, Dept Gastroenterol, Westmead, NSW 2145, Australia

[3] Royal Alexandra Hosp Children, Dept Anat Pathol, Westmead, NSW 2145, Australia

[4] Royal Childrens Hosp, Murdoch Inst Res, Melbourne, Vic, Australia

[5] Univ Sydney, Dept Paediat & Child Hlth, Sydney, NSW 2006, Australia

来源：

JOURNAL OF PEDIATRICS | 1999年 / 134卷 / 03期

关键词：

D O I：

10.1016/S0022-3476(99)70463-4

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report a child with an isolated complex III respiratory chain deficiency and global developmental delay who had severe pruritus with elevated plasma bile acid levels. A liver biopsy showed micronodular cirrhosis, and enzymologic evaluation demonstrated an isolated complex III deficiency in both liver and muscle. His pruritus improved and serum bile acid levels decreased after treatment with menadione and vitamin C.

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页码：352 / 354

页数：3

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