SynthesisOrphanet journal of rare diseases2014
Single amino acid supplementation in aminoacidopathies: a systematic review.
Synthesis in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 36 citations in OpenAlex.
- Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.Journal of inherited metabolic disease · 2026Article
- Simplifying supplementation in MSUD: tolerance and acceptability of liquid valine and isoleucine supplements in maple syrup urine disease.Orphanet journal of rare diseases · 2026Article
- Foods for special medical purposes for the dietary therapy of rare diseases: Current status and future prospects.Intractable & rare diseases research · 2026Review
- Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?Journal of inherited metabolic disease · 2026Article
- Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions.International journal of neonatal screening · 2025Review
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- Are protein substitutes available in Italy for infants with inherited metabolic diseases all the same?Frontiers in nutrition · 2025Article
- The glycineComputational and structural biotechnology journal · 2023Article
- Protein Biofortification in Lentils (Frontiers in plant science · 2022Article
- Association of maternal TSH and neonatal metabolism: A large prospective cohort study in China.Frontiers in endocrinology · 2022Article
- Developments in evidence creation for treatments of inborn errors of metabolism.Journal of inherited metabolic disease · 2021Review
- Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1.Nutrients · 2020Article
- Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.Orphanet journal of rare diseases · 2019Article
- Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center.Genetics and molecular biology · 2019Article
- Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report.Medicine · 2018Article
- Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases.Kidney diseases (Basel, Switzerland) · 2017Review
- Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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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 OpenQuestion graph.