Cross-sectional multicenter study of patients with urea cycle disorders in the United States

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• 作者：Mendel Tuchman ; Brendan Lee ; Uta Lichter-Konecki ; Marshall L. Summar ; Marc Yudkoff ; Stephen D. Cederbaum ; Douglas S. Kerr ; George A. Diaz ; Margaretta R. Seashore ; Hye-Seung Lee ; Robert J. McCarter ; Je
• 关键词：Rare diseases network ; Hyperammonemia ; Urea Cycle Disorders Consortium ; Inborn errors of metabolism ; Clinical research
• 刊名：Molecular Genetics and Metabolism
• 出版年：2008
• 出版时间：August 2008
• 年：2008
• 卷：94
• 期：4
• 页码：397-402
• 全文大小：935 K

文摘

Inherited urea cycle disorders comprise eight disorders (UCD), each caused by a deficiency of one of the proteins that is essential for ureagenesis. We report on a cross-sectional investigation to determine clinical and laboratory characteristics of patients with UCD in the United States. The data used for the analysis was collected at the time of enrollment of individuals with inherited UCD into a longitudinal observation study. The study has been conducted by the Urea Cycle Disorders Consortium within the Rare Diseases Clinical Research Network (RDCRN) funded by the National Institutes of Health. One-hundred eighty-three patients were enrolled into the study. Ornithine transcarbamylase (OTC) deficiency was the most frequent disorder (55 % ), followed by argininosuccinic aciduria (16 % ) and citrullinemia (14 % ). Seventy-nine percent of the participants were white (16 % Latinos), and 6 % were African American. Intellectual and developmental disabilities were reported in 39 % with learning disabilities (35 % ) and half had abnormal neurological examination. Sixty-three percent were on a protein restricted diet, 37 % were on Na-phenylbutyrate and 5 % were on Na-benzoate. Forty-five percent of OTC deficient patients were on l-citrulline, while most patients with citrullinemia (58 % ) and argininosuccinic aciduria (79 % ) were on l-arginine. Plasma levels of branched-chain amino acids were reduced in patients treated with ammonia scavenger drugs. Plasma glutamine levels were higher in proximal UCD and in neonatal type disease. The RDCRN allows comprehensive analyses of rare inherited UCD, their frequencies and current medical practices.