Intermittent Maple Syrup Urine Disease: Two Case Reports

被引：17

作者：

Axler, Olof ^{[1
]}

Holmquist, Peter ^{[2
]}

机构：

[1] Univ & Reg Labs Reg Skane, Dept Clin Chem, Skane, Sweden

[2] Univ Lund Hosp, Dept Pediat, Div Endocrinol, Lund, Sweden

来源：

PEDIATRICS | 2014年 / 133卷 / 02期

关键词：

maple syrup urine disease; branched-chain ketoacidurias; inborn errors of metabolism; MUTATIONS;

D O I：

10.1542/peds.2013-0427

中图分类号：

R72 [儿科学];

学科分类号：

100202 [儿科学];

摘要：

The presenting symptoms and clinical course of 2 cases of intermittent maple syrup urine disease (MSUD) are described. Intermittent MSUD is a potentially life-threatening metabolic disorder caused by a deficiency of branched-chain alpha-keto acid dehydrogenase, the enzyme complex that decarboxylates the 3 branched-chain amino acids. In contrast to classic MSUD, children with the intermittent form show normal development with normal intelligence and, when asymptomatic, normal levels of branched-chain amino acids. Symptoms usually appear between 5 months and 2 years of age, when a trivial infection such as otitis media or viral gastroenteritis triggers catabolism of muscle protein. Intermittent MSUD should be suspected in cases of common infections with a clinically atypical course, especially in children displaying ataxia or marked drowsiness.

引用

页码：E458 / E460

页数：3

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