A longitudinal study of urea cycle disorders

The urea cycle disorders consortium (UCDC) is a member of the NIH funded Rare Diseases Clinical Research Network and is performing a longitudinal study of 8 urea cycle disorders (UCD) with initial enrollment beginning in 2006. The consortium consists of 14 sites in the U.S., Canada and Europe. This...

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Main Authors: Batshaw, Mark L., Tuchman, Mendel, Summar, Marshall, Seminara, Jennifer
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4178008/
https://ncbi.nlm.nih.gov/pubmed/25135652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.08.001
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spelling pubmed-41780082015-09-01 A longitudinal study of urea cycle disorders Batshaw, Mark L. Tuchman, Mendel Summar, Marshall Seminara, Jennifer Mol Genet Metab Article The urea cycle disorders consortium (UCDC) is a member of the NIH funded Rare Diseases Clinical Research Network and is performing a longitudinal study of 8 urea cycle disorders (UCD) with initial enrollment beginning in 2006. The consortium consists of 14 sites in the U.S., Canada and Europe. This report summarizes data mining studies of 614 patients with UCD enrolled in the UCDC’s longitudinal study protocol. The most common disorder is ornithine transcarbamylase deficiency, accounting for more than half of the participants. We calculated the overall prevalence of urea cycle disorders to be 1/35,000, with 2/3rds presenting initial symptoms after the newborn period. We found the mortality rate to be 24% in neonatal onset cases and 11% in late onset cases. The most common precipitant of clinical hyperammonemic episodes in the post-neonatal period was intercurrent infections. Elevations in both blood ammonia and glutamine appeared to be biomarkers for neurocognitive outcome. In terms of chronic treatment, low protein diet appeared to result in normal weight but decreased linear growth while N-scavenger therapy with phenybutyrate resulted in low levels of branched chain amino acids. Finally, we found an unexpectedly high risk for hepatic dysfunction in patients with ornithine transcarbamylase deficiency. This natural history study illustrates how a collaborative study of a rare genetic disorder can result in an improved understanding of morbidity and disease outcome. 2014-08-10 2014 /pmc/articles/PMC4178008/ /pubmed/25135652 http://dx.doi.org/10.1016/j.ymgme.2014.08.001 Text en © 2014 Elsevier Inc. All rights reserved.
institution US NLM
collection PubMed Central
language Inglês
format Artigo
topic Article
spellingShingle Article
Batshaw, Mark L.
Tuchman, Mendel
Summar, Marshall
Seminara, Jennifer
A longitudinal study of urea cycle disorders
description The urea cycle disorders consortium (UCDC) is a member of the NIH funded Rare Diseases Clinical Research Network and is performing a longitudinal study of 8 urea cycle disorders (UCD) with initial enrollment beginning in 2006. The consortium consists of 14 sites in the U.S., Canada and Europe. This report summarizes data mining studies of 614 patients with UCD enrolled in the UCDC’s longitudinal study protocol. The most common disorder is ornithine transcarbamylase deficiency, accounting for more than half of the participants. We calculated the overall prevalence of urea cycle disorders to be 1/35,000, with 2/3rds presenting initial symptoms after the newborn period. We found the mortality rate to be 24% in neonatal onset cases and 11% in late onset cases. The most common precipitant of clinical hyperammonemic episodes in the post-neonatal period was intercurrent infections. Elevations in both blood ammonia and glutamine appeared to be biomarkers for neurocognitive outcome. In terms of chronic treatment, low protein diet appeared to result in normal weight but decreased linear growth while N-scavenger therapy with phenybutyrate resulted in low levels of branched chain amino acids. Finally, we found an unexpectedly high risk for hepatic dysfunction in patients with ornithine transcarbamylase deficiency. This natural history study illustrates how a collaborative study of a rare genetic disorder can result in an improved understanding of morbidity and disease outcome.
author Batshaw, Mark L.
Tuchman, Mendel
Summar, Marshall
Seminara, Jennifer
author_facet Batshaw, Mark L.
Tuchman, Mendel
Summar, Marshall
Seminara, Jennifer
author_sort Batshaw, Mark L.
title A longitudinal study of urea cycle disorders
title_short A longitudinal study of urea cycle disorders
title_full A longitudinal study of urea cycle disorders
title_fullStr A longitudinal study of urea cycle disorders
title_full_unstemmed A longitudinal study of urea cycle disorders
title_sort longitudinal study of urea cycle disorders
publishDate 2014
url https://ncbi.nlm.nih.gov/pmc/articles/PMC4178008/
https://ncbi.nlm.nih.gov/pubmed/25135652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2014.08.001
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