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A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy

✍ Scribed by U Schimanski; D Krieger; M Horn; W Stremmel; B Wermuth; L Theilmann

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 174 KB
Volume: 24
Category: Article
ISSN: 0270-9139
DOI: 10.1002/hep.510240618

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✦ Synopsis

CASE REPORT

Ornithine transcarbamylase (OTC) deficiency shows X-linked inheritance. Typically, symptomatic females

A 24-year-old Laotse patient developed hyperemesis gravidarum (who constitute 15%-20% of all carriers) have markedly in the 10th week of gestation in week 14 after having lost 10 kg in reduced enzyme activity and show first symptoms in late a period of 3 weeks. Before, she had normal body weight. This was her infancy or early childhood. Here we present the case of second pregnancy, the first having ended by spontaneous abortion for a previously asymptomatic 24-year-old woman who died unknown reasons 2 years ago. Otherwise, her medical history was of severe hyperammonemia associated with orotic accompletely uneventful. Upon admission to the hospital, she showed iduria but normal OTC activity in the fourth month of sudden episodes of mental confusion. An elevated prothrombin time (international normalized ratio Å 3) was found, and she was trans-

pregnancy. DNA analysis revealed a novel mutation in

ferred to the Department of Internal Medicine of Heidelberg Univerform of the deletion of two nucleotides (T892, G893) in sity for further evaluation. Physical examination showed regular exon 9 of the OTC gene, leading to a frame shift and an findings, and gynecological examination revealed an intact preg-Abbreviations: OTC, ornithine transcarbamylase; CoA, coenzyme A.

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