Single Amino Acid Supplementation in Inherited Metabolic Disorders: An Evidence-Based Review of Interventions DOI Open Access
Elvira Verduci, Martina Tosi, Carlo Dionisi‐Vici

et al.

Genes, Journal Year: 2025, Volume and Issue: 16(5), P. 502 - 502

Published: April 27, 2025

Background/Objectives: Inherited metabolic disorders (IMDs) are a group of genetic conditions affecting pathways. The treatment some IMDs requires the dietary restriction specific amino acids. may also necessitate supplementation one or more acids due to factors such as reduced intake, impaired synthesis, defective transport absorption, increased utilization. This literature review aims evaluate most recent evidence regarding acid in IMDs, considering not only prevention deficiency and toxic accumulation but competition with other metabolites. Methods: A systematic search strategy was developed applied PubMed/Medline Scopus databases identify relevant studies. Amino were categorized into six groups: branched-chain acids, aromatic sulfur urea cycle essential non-essential Results: total 24 rare evaluated. final number 99 selected articles assessed based on Oxford Centre for Evidence-Based Medicine 2011 Levels Evidence. Although this work represents preliminary non-systematic review, it highlights need further studies data collection. Conclusions: Future research must establish plasma levels that indicate supplementation, specify appropriate dosages (g/day mg/kg/day), determine optimal duration, and, crucially, define target ranges be maintained effective management IMDs.

Language: Английский

Single Amino Acid Supplementation in Inherited Metabolic Disorders: An Evidence-Based Review of Interventions DOI Open Access
Elvira Verduci, Martina Tosi, Carlo Dionisi‐Vici

et al.

Genes, Journal Year: 2025, Volume and Issue: 16(5), P. 502 - 502

Published: April 27, 2025

Background/Objectives: Inherited metabolic disorders (IMDs) are a group of genetic conditions affecting pathways. The treatment some IMDs requires the dietary restriction specific amino acids. may also necessitate supplementation one or more acids due to factors such as reduced intake, impaired synthesis, defective transport absorption, increased utilization. This literature review aims evaluate most recent evidence regarding acid in IMDs, considering not only prevention deficiency and toxic accumulation but competition with other metabolites. Methods: A systematic search strategy was developed applied PubMed/Medline Scopus databases identify relevant studies. Amino were categorized into six groups: branched-chain acids, aromatic sulfur urea cycle essential non-essential Results: total 24 rare evaluated. final number 99 selected articles assessed based on Oxford Centre for Evidence-Based Medicine 2011 Levels Evidence. Although this work represents preliminary non-systematic review, it highlights need further studies data collection. Conclusions: Future research must establish plasma levels that indicate supplementation, specify appropriate dosages (g/day mg/kg/day), determine optimal duration, and, crucially, define target ranges be maintained effective management IMDs.

Language: Английский

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