Evidence map›Paper›PMID 40428324›Full record

ReviewGenes2025

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

Elvira Verduci, Martina Tosi, Carlo Dionisi Vici, Marco Spada

Abstract readReview
In one paragraph

Review in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Elvira VerduciDepartment of Health Sciences, University of Milan, 20142 Milan, Italy.ORCID 0000-0003-2111-3111
Martina TosiDepartment of Health Sciences, University of Milan, 20142 Milan, Italy.ORCID 0000-0003-4859-5288
Carlo Dionisi ViciDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.ORCID 0000-0002-0007-3379
Marco SpadaDepartment of Pediatrics, University of Torino, 10124 Torino, Italy.ORCID 0000-0002-8894-350X

Funding

Project funded under the National Recovery and Resilience Plan (NRRP), Mission 4 Component 2 Investment 1.3 - Call for tender No. 341 of 15 March 2022 of Italian Ministry of University and Research funded by the European Union - NextGenerationEU Project code PE00000003
6 · The paper itself

Abstract

BACKGROUND/

objectivesInherited 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.

methodsA systematic search strategy was developed and applied to PubMed/Medline and Scopus databases to identify relevant studies. Amino acids were categorized into six groups: branched-chain amino acids, aromatic amino acids, sulfur amino acids, urea cycle amino acids, other essential amino acids, and other non-essential amino acids.

resultsA total of 24 rare IMDs were evaluated. A final number of 99 selected articles were assessed based on the Oxford Centre for Evidence-Based Medicine 2011 Levels of Evidence. Although this work represents a preliminary non-systematic review, it highlights the need for further studies and data collection.

conclusionsFuture research must establish the plasma amino acid levels that indicate the need for supplementation, specify the appropriate dosages (g/day or mg/kg/day), determine the optimal treatment duration, and, crucially, define the target plasma ranges to be maintained for effective management of IMDs.

Indexed as

Amino AcidsDietary SupplementsMetabolic DiseasesMetabolism, Inborn ErrorsAmino Acids, Branched-ChainEvidence-Based MedicineHumansAmino AcidsAmino Acids, Branched-Chainamino acidsbranched-chain amino acidsinherited metabolic disordersnutritionsupplementation

Identifiers

PMID40428324
PMCPMC12111424

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.