Long-Term Treatment of Girls with Ornithine Transcarbamylase Deficiency
Open Access
- 19 September 1996
- journal article
- clinical trial
- Published by Massachusetts Medical Society in The New England Journal of Medicine
- Vol. 335 (12), 855-860
- https://doi.org/10.1056/nejm199609193351204
Abstract
Ornithine transcarbamylase is an X-linked mitochondrial enzyme that catalyzes the synthesis of citrulline from carbamoyl phosphate and ornithine. A deficiency of this enzyme leads to hyperammonemia and hyperglutaminemia. In boys the disease is often fatal when its onset occurs during the neonatal period, but it is milder when onset occurs later in childhood. Heterozygous girls may be normal or may have episodes of hyperammonemic encephalopathy and decline in cognitive function. We report here on the long-term outcome in girls with ornithine transcarbamylase deficiency enrolled in studies of treatments designed to activate new pathways of waste-nitrogen excretion.Keywords
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