Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile

Pediatrics International : Official Journal of the Japan Pediatric Society
Eimei HaradaM Yoshino

Abstract

The occurrence of male patients with ornithine transcarbamylase (OTC) deficiency during adolescence or in adulthood has now been recognized. The aim of this study was to determine the prognostic factors that affect the prognosis of life, to explore a basis for therapeutic strategy. In 10 patients, nine of whom carried the R40H mutation and the other one carrying the Y55D mutation in the OTC gene, 32 demographic and laboratory data were first compared between survivors and non-survivors, using the unpaired t-test. The factors with significant difference were then subjected to multiple regression analysis. The factors that exhibited significant difference were: age at onset, concentration of plasma ammonium, blood pH, and concentrations of six amino acids in plasma. The multiple regression analysis then revealed concentrations of ammonium, leucine, lysine, isoleucine, phenylalanine, glutamine and proline to be significant prognostic factors. The amino acid profile in the 10 patients showed increases in glutamine, proline, lysine, valine and methionine, and decreases in serine, ornithine and arginine. There was an inverse correlation between the age at onset and the level of the residual hepatic OTC activity. The results implied t...Continue Reading

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Citations

Oct 31, 2012·Journal of Inherited Metabolic Disease·Olivier BraissantCristina Cudalbu
May 31, 2012·Orphanet Journal of Rare Diseases·Johannes HäberleCarlo Dionisi-Vici
Sep 3, 2009·Case Reports in Medicine·Vikrant MittalRajesh R Tampi
Jun 26, 2012·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Michaela FanturMartin Fruehwirth
Mar 17, 2010·Molecular Genetics and Metabolism·Olivier Braissant
Sep 21, 2007·Brain Research Reviews·Laurène Cagnon, Olivier Braissant
Sep 1, 2010·The Neuroradiology Journal·A MantoM R La Rocca
Jan 1, 2014·SAGE Open Medical Case Reports·Eric T RushWilliam B Rizzo
Apr 16, 2019·Journal of Inherited Metabolic Disease·Johannes HäberleCarlo Dionisi-Vici
Jul 8, 2021·Journal of Inherited Metabolic Disease·Jun KidoKimitoshi Nakamura

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