30-year follow-up of a patient with classic citrullinemia

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• 作者：Nicola Brunetti-Pierri^a ; ¹ ; Kerri M. Lamance^a ; Richard Alan Lewis^a ; ^b ; ^c ; William J. Craigen^a ; ^c ; ^{wcraigen@bcm.edu}
• 关键词：ASS ; argininosuccinate synthetase ; HDAC ; histone deacetylase ; LVOT ; left ventricular outflow tract ; LVPW ; left ventricular posterior wall ; LVSF ; left ventricular shortening fraction ; NO ; nitric oxide
• 刊名：Molecular Genetics and Metabolism
• 出版年：2012
• 期刊代码：175_10967192
• 类别：bio
• 出版时间：June, 2012
• 卷：106
• 期：2
• 页码：248-250
• 文件大小：139 K

摘要

Citrullinemia is a urea cycle defect requiring long-term care with nutritional and pharmacological management. Despite treatment, morbidity and mortality of this disease remain high, and long-term complications include mild to profound mental retardation, seizures, and growth deficiency. We report a 31-year old woman with classic, neonatal-onset citrullinemia who developed progressive hypertrophic cardiomyopathy and cataracts, neither of which has been recognized previously as a complication of the disease or a consequence of long-term drug treatment.