Fatal hyperammonemic coma caused by ornithine transcarbamylase deficiency in a woman
β Scribed by Thomas Perpoint; Laurent Argaud; Quentin Blanc; Dominique Robert
- Publisher
- Springer
- Year
- 2001
- Tongue
- English
- Weight
- 26 KB
- Volume
- 27
- Category
- Article
- ISSN
- 1432-1238
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π SIMILAR VOLUMES
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
A Leu148Phe substitution of the ornithine transcarbamylase (OTC) gene was identified in a 2-year-old girl with OTC deficiency (14% of control). Her two elder sisters died in childhood of hyperammonemia, and the patient also died of OTC deficiency. Enzyme activity in Cos1 cells transfected by the mut
We describe a 4-generation family in which a previously healthy 10-year-old boy died of late-onset ornithine transcarbamylase (OTC) deficiency. Pedigree analysis and allopurinol loading tests in female relatives were not informative. A missense mutation (A208T) in the OTC gene was detected in the de