ReviewCurrent research in physiology2025
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Review in Current research in physiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 7 of them syntheses that pooled it.
What it found
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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.
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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.
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Who cites it
9 citing papers in PubMed, 7 syntheses or guidelines pooled it.
- Utero-placental calcium and magnesium ion channels: A systematic review of obstetric implications of their alterations.Channels (Austin, Tex.) · 2026Pooled it
- Protein sorting and proteostasis mechanisms in CFTR-related exocrine pancreas dysfunction: A systematic narrative review.Channels (Austin, Tex.) · 2026Pooled it
- Melatonin as a protector against endocrine disruption across tissues: A systematic review.Physiological reports · 2026Pooled it
- Physiological significance of autocrine orexinergic signaling in extra-hypothalamic tissues.Physiological reports · 2026Pooled it
- Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review.Frontiers in genetics · 2026Pooled it
- Genetic and environmental factors associated with alteration of filtration slit proteins and their functions: a scoping review.Frontiers in nephrology · 2025Pooled it
- Pooled it
- Importance of Recognizing Renal Tubular Disorders as a Cause of Bone Hypomineralization and Fractures in Adults.Diagnostics (Basel, Switzerland) · 2026Review
- Gastric Proton Pumpopathy Associated with Protein Sorting Machinery: A Narrative Review.Clinical and experimental gastroenterology · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Amino acids play vital roles in protein synthesis, energy metabolism, and cellular function. Aminoacidurias are metabolic disorders characterized by excessive urinary excretion of amino acids resulting from defects in renal tubular reabsorption or amino acid metabolism. These disorders result from a combination of genetic mutations affecting transporter proteins and environmental factors that influence disease severity. This review aims to explore the molecular mechanisms by which genetic and environmental factors disrupt amino acid homeostasis. Methods: A scoping review was conducted following Arksey and O'Malley's framework. Relevant literature from 1980 to 2025 was identified using the PubMed and Google Scholar databases. Studies reporting genes or genetic variants, as well as environmental factors associated with aminoacidurias in humans and animals, were included. Results: The review highlighted 9 genes associated with aminoacidurias, including SLC3A1 (rBAT), SLC7A9 (b Conclusion: Understanding the genetic and environmental mechanisms underlying aminoacidurias is crucial for improving diagnostic strategies and developing targeted therapeutic approaches. Our findings reveal that aminoacidurias are largely influenced by genetic factors, with few environmental factors implicated in the pathophysiology of aminoacidurias. Future research should focus on gene-environment interactions and developing novel therapies targeting specific amino acid transport pathways to enhance treatment outcomes for affected individuals.
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Registered trials
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