Single Amino Acid Supplementation in Inherited Metabolic Disorders: An Evidence-Based Review of Interventions.

ABSTRACT:

Background/objectives

Inherited metabolic disorders (IMDs) are a group of genetic conditions affecting metabolic pathways. The treatment of some IMDs requires the dietary restriction of specific amino acids. IMDs may also necessitate the supplementation of one or more amino acids due to factors such as reduced dietary intake, impaired synthesis, defective transport or absorption, or increased utilization. This literature review aims to evaluate the most recent evidence regarding amino acid supplementation in IMDs, considering not only the prevention of amino acid deficiency and toxic accumulation but also the competition with other toxic metabolites.

Methods

A systematic search strategy was developed and applied to PubMed/Medline and Scopus databases to identify relevant stu

SUBMITTER: Verduci E 

PROVIDER: S-EPMC12111424 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature