Single amino acid supplementation in aminoacidopathies: a systematic review

Orphanet Journal of Rare Diseases

Francjan J van Spronsen¹  M Rebecca Heiner-Fokkema³  Anita MacDonald²  Martijn J de Groot¹  Margreet van Rijn¹  Terry GJ Derks¹  Danique van Vliet¹ 

[1] Department of Metabolic Diseases, Beatrix Children’s Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands;Dietetic Department, Birmingham Children’s Hospital, Birmingham, United Kingdom;Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands

关键词: Organic acidurias;    Amino acid mixture;    Dietary management;    Single amino acid supplementation;    Inborn errors of metabolism;    Aminoacidopathies;   

Others  :  863311
DOI  :  10.1186/1750-1172-9-7

 received in 2013-11-28, accepted in 2013-12-27,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 van Vliet et al.; licensee BioMed Central Ltd.

【 图 表 】

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