Fatal clinical course of ornithine transcarbamylase deficiency in an adult heterozygous female patient

被引：9

作者：

Heringlake, S

Boker, K

Manns, M

机构：

[1] Department of Gastroenterology and Hepatology, Medizinische Hochschule Hannover, Hannover

来源：

DIGESTION | 1997年 / 58卷 / 01期

关键词：

ornithine transcarbamylase deficiency; hyperammonemia; genetics; continuous arteriovenous hemofiltration; liver transplantation; INBORN-ERRORS; LIVER-TRANSPLANTATION; UREA SYNTHESIS; AMINO-ACID; GENE; HYPERAMMONEMIA; METABOLISM; MUTATIONS; EXCRETION; CHILDREN;

D O I：

10.1159/000201428

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Ornithine transcarbamylase (OTC) deficiency is an X-linked inherited disease and the most common inborn error in urea synthesis in humans. In adult heterozygous patients, partial OTC deficiency can be responsible for life-threatening hyperammonemic coma, with a frequency of 15%. We report the clinical course of a heterozygous female patient and discuss the therapeutic options, including hemodialysis and continuous arteriovenous hemofiltration for reduction of ammonia levels as well as liver transplantation as a definitive therapy.

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页码：83 / 86

页数：4

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