Diagnosis and treatment of ornithine transcarbamylase (OTC)-deficiency

被引：1
|
作者：
Monch, E [1 ]
Hoffmann, GF [1 ]
Przyrembel, H [1 ]
Colombo, JP [1 ]
Wermuth, B [1 ]
Leonard, JV [1 ]
机构：
[1] Humboldt Univ, Kliniken & Polikliniken Kinderheilkunde, D-13353 Berlin, Germany
来源：
MONATSSCHRIFT KINDERHEILKUNDE | 1998年 / 146卷 / 07期
关键词：
OTC; urea cycle; hyperammonemia; heterozygotes;
D O I：
10.1007/s001120050305
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Ornithine transcarbamylase deficiency is the most frequent inborn error of metabolism of the urea cycle which causes severe hyperammonemia in hemizygous boys within the first days of life. However, also girls heterozygous for this x-linked disorder can develop life-threatening hyperammonemia and chronic progressive encephalopathy. This paper describes the emergency treatment of first manifestations including all necessary diagnostic measures as well as the longterm therapy and its control. Enclosed are the details about the allopurinol challenge test for the detection of heterozygous women and girls.
引用
收藏
页码：652 / 658
页数：9
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