The New England journal of medicine
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Clinical Trial Controlled Clinical Trial
Long-term treatment of girls with ornithine transcarbamylase deficiency.
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. ⋯ Girls with symptomatic ornithine transcarbamylase deficiency who are treated with drugs that activate new pathways of waste-nitrogen excretion have fewer hyperammonemic episodes and a reduced risk of further cognitive decline.
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There are wide disparities between blacks and whites in the use of many Medicare services. We studied the effects of race and income on mortality and use of services. ⋯ Race and income have substantial effects on mortality and use of services among Medicare beneficiaries. Providing health insurance is not enough to ensure that the program is used effectively and equitably by all beneficiaries.