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Open Access 01-12-2014 | Review

Single amino acid supplementation in aminoacidopathies: a systematic review

Authors: Danique van Vliet, Terry GJ Derks, Margreet van Rijn, Martijn J de Groot, Anita MacDonald, M Rebecca Heiner-Fokkema, Francjan J van Spronsen

Published in: Orphanet Journal of Rare Diseases | Issue 1/2014

Abstract

Aminoacidopathies are a group of rare and diverse disorders, caused by the deficiency of an enzyme or transporter involved in amino acid metabolism. For most aminoacidopathies, dietary management is the mainstay of treatment. Such treatment includes severe natural protein restriction, combined with protein substitution with all amino acids except the amino acids prior to the metabolic block and enriched with the amino acid that has become essential by the enzymatic defect. For some aminoacidopathies, supplementation of one or two amino acids, that have not become essential by the enzymatic defect, has been suggested. This so-called single amino acid supplementation can serve different treatment objectives, but evidence is limited. The aim of the present article is to provide a systematic review on the reasons for applications of single amino acid supplementation in aminoacidopathies treated with natural protein restriction and synthetic amino acid mixtures.

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Title: Single amino acid supplementation in aminoacidopathies: a systematic review
Authors: Danique van Vliet
Terry GJ Derks
Margreet van Rijn
Martijn J de Groot
Anita MacDonald
M Rebecca Heiner-Fokkema
Francjan J van Spronsen
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2014
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-9-7

At a glance: The STEP trials

Springer Medicine

Single amino acid supplementation in aminoacidopathies: a systematic review

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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