Single amino acid supplementation in aminoacidopathies: a systematic review
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...
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| Veröffentlicht in: | Orphanet journal of rare diseases 2014-01, Vol.9 (1), p.7-7, Article 7 |
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| creator | van Vliet, Danique Derks, Terry G J van Rijn, Margreet de Groot, Martijn J MacDonald, Anita Heiner-Fokkema, M Rebecca van Spronsen, Francjan J |
| description | 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. |
| doi_str_mv | 10.1186/1750-1172-9-7 |
| format | Article |
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| source | MEDLINE; DOAJ Directory of Open Access Journals; SpringerLink Journals; PubMed Central Open Access; Springer Nature OA Free Journals; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Amino Acid Metabolism, Inborn Errors - diet therapy Amino acids Amino Acids - therapeutic use Dietary Supplements Health aspects Humans Pharmaceutical industry Physiological aspects Review |
| title | Single amino acid supplementation in aminoacidopathies: a systematic review |
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