Single amino acid supplementation in aminoacidopathies: a systematic review.
Orphanet J Rare Dis
; 9: 7, 2014 Jan 13.
Article
in En
| MEDLINE
| ID: mdl-24422943
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.
Full text:
1
Database:
MEDLINE
Main subject:
Amino Acid Metabolism, Inborn Errors
/
Amino Acids
Type of study:
Systematic_reviews
Language:
En
Journal:
Orphanet J Rare Dis
Year:
2014
Type:
Article