van Vliet Danique, Derks Terry G J, van Rijn Margreet, de Groot Martijn J, MacDonald Anita, Heiner-Fokkema M Rebecca, van Spronsen Francjan J
Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Orphanet J Rare Dis. 2014 Jan 13;9:7. doi: 10.1186/1750-1172-9-7.
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.
氨基酸病是一组罕见且多样的疾病，由参与氨基酸代谢的酶或转运蛋白缺乏引起。对于大多数氨基酸病来说，饮食管理是主要的治疗方法。这种治疗包括严格限制天然蛋白质摄入，同时用除代谢阻断前的氨基酸之外的所有氨基酸进行蛋白质替代，并补充因酶缺陷而变得必需的氨基酸。对于一些氨基酸病，有人建议补充一两种因酶缺陷而未变得必需的氨基酸。这种所谓的单一氨基酸补充可用于不同的治疗目的，但证据有限。本文旨在对在天然蛋白质限制和合成氨基酸混合物治疗的氨基酸病中应用单一氨基酸补充的原因进行系统综述。
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