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Coma, hyperammonemia, metabolic acidosis, and mutation: Lessons learned in the acute management of late onset urea cycle disorders
Author(s) -
Iyer Hari,
Sen Mithu,
Prasad Chitra,
Rupar C. Anthony,
Lindsay Robert M.
Publication year - 2012
Publication title -
hemodialysis international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.658
H-Index - 47
eISSN - 1542-4758
pISSN - 1492-7535
DOI - 10.1111/j.1542-4758.2011.00591.x
Subject(s) - hyperammonemia , urea cycle , medicine , coma (optics) , pediatrics , metabolic acidosis , encephalopathy , vomiting , metabolic disorder , intensive care medicine , occult , pathology , biochemistry , chemistry , physics , amino acid , arginine , optics , alternative medicine
Urea cycle disorders are an important and treatable cause of hyperammonemia in the newborn and pediatric age group. Presentation in adolescence or adult life is rare and can manifest as frequent vomiting and behavioral changes. An inherited metabolic disorder should be considered in adults with obvious or occult encephalopathy. Failure to diagnose and treat rapidly may lead to irreversible neuronal damage. An improved understanding of the diagnosis and management of late‐onset urea cycle disorders is needed to assist nephrologists in providing optimal care. This report describes the clinical characteristics of a young man with first presentation of hyperammonemia in adult life.