Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy

INTRODUCTION: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. We report three cases of ornithine transcarbamylase deficiency to illustrate the late-onset presentation of this disorder...

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Udgivet i:SAGE Open Med Case Rep
Main Authors: Rush, Eric T, Hartmann, Julianne E, Skrabal, Jill C, Rizzo, William B
Format: Artigo
Sprog:Inglês
Udgivet: SAGE Publications 2014
Fag:
Case Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4857352/
https://ncbi.nlm.nih.gov/pubmed/27489649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2050313X14546348
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