Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency

Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder associated with hyperammonemia. Heterozygous females have variable clinical expression, ranging from asymptomatic illness to recurrent episodes of hyperammonemic coma. We studied 17 OTC-deficient kindreds containing 114 women at ris...

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Veröffentlicht in:	The Journal of pediatrics 1986-02, Vol.108 (2), p.236-241
Hauptverfasser:	BATSHAW, M. L, MSALL, M, BEAUDET, A. L, TROJAK, J
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Metabolism, Inborn Errors - complications Amino Acid Metabolism, Inborn Errors - genetics Aminoacid disorders Ammonia - blood Applied sciences Biological and medical sciences Child, Preschool Coma - etiology Errors of metabolism Exact sciences and technology Female Genetic Carrier Screening Genetic Linkage Heterozygote Humans Infant Infant, Newborn Male Medical sciences Metabolic diseases Ornithine Carbamoyltransferase Deficiency Disease Other techniques and industries Pedigree Risk X Chromosome
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