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.
Highlights
Inborn errors of amino acid metabolism or aminoacidopathies are a group of rare and diverse disorders, in total affecting about 1 in 1000 humans worldwide [1]
We focus on objectives other than to overcome a deficiency of the amino acid that has become essential by the enzymatic defect
For most aminoacidopathies, dietary treatment includes natural protein restriction combined with a synthetic amino acid mixture devoid of the amino acids prior to the metabolic block or essential amino acid supplementation
Summary
Inborn errors of amino acid metabolism or aminoacidopathies are a group of rare and diverse disorders, in total affecting about 1 in 1000 humans worldwide [1]. These disorders can be subdivided in organic acidurias, urea cycle defects, transport defects of urea cycle intermediates, and remaining aminoacidopathies. Dietary treatment aims to prevent accumulation of the substrates and associated metabolites to toxic levels, and to restore deficiencies of the enzymatic products [2] This can be accomplished by natural protein restriction, combined with protein substitution with all amino acids except for the amino acids prior to the metabolic block and enriched with the amino acid that has become essential by the enzymatic defect [3,4]. Additional supplementation of one or two single amino acids may be required for other purposes
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