| Literature DB >> 27000017 |
Alexander Laemmle1, Tamar Stricker1, Johannes Häberle2.
Abstract
A male patient, born in 1999, was diagnosed with ornithine transcarbamylase deficiency as neonate and was managed with a strict low-protein diet supplemented with essential amino acids, L-citrulline, and L-arginine as well as sodium benzoate. He had an extensive history of hospitalizations for hyperammonemic crises throughout childhood and early adolescence, which continued after the addition of sodium phenylbutyrate in 2009. In December 2013 he was switched to glycerol phenylbutyrate, and his metabolic stability was greatly improved over the following 7 months prior to liver transplant.Entities:
Keywords: Glycerol phenylbutyrate; Hyperammonemia; Ornithine transcarbamylase deficiency; Sodium phenylbutyrate; Urea cycle disorder
Year: 2016 PMID: 27000017 PMCID: PMC5388640 DOI: 10.1007/8904_2016_551
Source DB: PubMed Journal: JIMD Rep ISSN: 2192-8304