title: Single amino acid supplementation in aminoacidopathies: a systematic review.
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.
authors.forename: Danique
authors.initials: D
authors.lastname: van Vliet
authors.forename: Terry G J
authors.initials: TG
authors.lastname: Derks
authors.forename: Margreet
authors.initials: M
authors.lastname: van Rijn
authors.forename: Martijn J
authors.initials: MJ
authors.lastname: de Groot
authors.forename: Anita
authors.initials: A
authors.lastname: MacDonald
authors.forename: M Rebecca
authors.initials: MR
authors.lastname: Heiner-Fokkema
authors.affiliation: Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. f.j.van.spronsen@umcg.nl.
authors.forename: Francjan J
authors.initials: FJ
authors.lastname: van Spronsen
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy*; D000596:Amino Acids / Q000627:therapeutic use*; D019587:Dietary Supplements; D006801:Humans
chemical_list: D000596:Amino Acids