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Unusual biochemical and clinical features in a girl with ornithine transcarbamylase deficiency

✍ Scribed by Lacey, Daniel J.; Duffner, Patricia K.; Cohen, Michael E.; Mosovich, Luis


Book ID
122879877
Publisher
Elsevier Science
Year
1986
Tongue
English
Weight
282 KB
Volume
2
Category
Article
ISSN
0887-8994

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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