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• W2000989436 abstract "Ornithine transcarbamylase (OTC) deficiency shows X-linked inheritance. Typically, symptomatic females (who constitute 15%-20% of all carriers) have markedly reduced enzyme activity and show first symptoms in late infancy or early childhood. Here we present the case of a previously asymptomatic 24-year-old woman who died of severe hyperammonemia associated with orotic aciduria but normal OTC activity in the fourth month of pregnancy. DNA analysis revealed a novel mutation in form of the deletion of two nucleotides (T892, G893) in exon 9 of the OTC gene, leading to a frame shift and an aberrant gene product. We suggest that OTC deficiency should be suspected in any patient who presents with hyperammonia in the presence of otherwise normal liver function." @default.
• W2000989436 created "2016-06-24" @default.
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• W2000989436 date "1996-12-01" @default.
• W2000989436 modified "2023-10-14" @default.
• W2000989436 title "A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy" @default.
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• W2000989436 doi "https://doi.org/10.1002/hep.510240618" @default.
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