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Switch from sodium phenylbutyrate to glycerol phenylbutyrate improved metabolic stability in an adolescent with ornithine transcarbamylase deficiency


Laemmle, Alexander; Stricker, Tamar; Häberle, Johannes (2017). Switch from sodium phenylbutyrate to glycerol phenylbutyrate improved metabolic stability in an adolescent with ornithine transcarbamylase deficiency. In: Morava, E; Baumgartner, M; Patterson, M; Rahman, S; Zschocke, J; Peters, V. JIMD Reports, Volume 31. Berlin, Heidelberg: Springer, 11-14.

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.

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.

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Additional indexing

Item Type:Book Section, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Health Sciences > Internal Medicine
Health Sciences > Endocrinology, Diabetes and Metabolism
Life Sciences > Biochemistry, Genetics and Molecular Biology (miscellaneous)
Language:English
Date:22 March 2017
Deposited On:27 Jan 2017 13:21
Last Modified:26 Jan 2022 11:42
Publisher:Springer
Series Name:JIMD Reports
Number:31
ISSN:2192-8304
ISBN:978-3-662-54118-0
OA Status:Closed
Free access at:PubMed ID. An embargo period may apply.
Publisher DOI:https://doi.org/10.1007/8904_2016_551
PubMed ID:27000017

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