Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation

A large family with ornithine transcarbamylase deficiency due to mutation R141Q was ascertained through a propositus who presented with acute neonatal hyperammonemic coma. Of 13 females at risk, 11 were evaluated clinically and had laboratory studies performed. Seven were found to be heterozygous fo...

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Veröffentlicht in:	American journal of medical genetics 1996-12, Vol.66 (3), p.311-315
Hauptverfasser:	Ahrens, Mary J., Berry, Susan A., Whitley, Chester B., Markowitz, Dorothy J., Plante, Robert J., Tuchman, Mendel
Format:	Artikel
Sprache:	eng
Schlagworte:	Allopurinol - blood Amino Acid Metabolism, Inborn Errors - blood Amino Acid Metabolism, Inborn Errors - enzymology Amino Acid Metabolism, Inborn Errors - genetics Aminoacid disorders Ammonia - blood Arginine - blood Biological and medical sciences Citrulline - blood clinical heterogeneity Errors of metabolism Female Glutamine - blood Heterozygote Humans hyperammonemia Infant, Newborn Male Medical sciences Metabolic diseases Mutation Ornithine Carbamoyltransferase - genetics Ornithine Carbamoyltransferase Deficiency Disease ornithine transcarbamylase deficiency ornithine transcarbamylase gene Orotic Acid - blood Orotic Acid - urine Pedigree urea cycle X-linked heterozygosity
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