ArticleTranslational science of rare diseases2016
Disorders of branched chain amino acid metabolism.
Article in Translational science of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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Who cites it
74 citing papers in PubMed, 102 citations in OpenAlex.
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- Association and predictive value of blood branched-chain and excitatory amino acids with autism spectrum disorder severity.BMC pediatrics · 2026Article
- Clinical and genotypic analysis of 79 children with methylmalonic acidemia: a retrospective single-center study in China.Frontiers in endocrinology · 2026Article
- Integrated multi-omics analysis unveils microbiota-metabolite-host interactions and novel biomarkers for early diabetic kidney disease diagnosis.Frontiers in immunology · 2026Article
- Review
- Branched-chain amino acids in muscle growth: mechanisms, physiological functions, and applications.Journal of animal science and biotechnology · 2025Review
- Discovery and Profiling of Protein CysteineMolecules (Basel, Switzerland) · 2025Article
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- APOE genotype influences on the brain metabolome of aging mice - role for mitochondrial energetics in mechanisms of resilience in APOE2 genotype.Molecular neurodegeneration · 2025Article
- Disruption of gut microbiome and metabolome in treatment-naïve children with attention deficit hyperactivity disorder.BMC microbiology · 2025Article
- BCKDK gene mutations as a rare condition responsible for comorbid neurodevelopmental delay, autism, and epilepsy: a case series of four patients.Annals of medicine and surgery (2012) · 2025Article
- Lethal neonatal acidosis: Multiomic investigation of a novelMolecular genetics and metabolism reports · 2025Article
- Effects of different ratio of sweet sorghum silage to corn silage diets on serum metabolome of lactating dairy cows.Tropical animal health and production · 2025Article
- Impact of maternal anemia during pregnancy on neonatal metabolic profiles: evidence from the Beijing Birth Cohort Study.BMC pregnancy and childbirth · 2025Observational
- Metabolic profiling in experimental guinea pig models of bacterial and allergic inflammation.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Mechanism of calcitonin gene related peptide against acute pancreatitis in rats by modulating amino acid metabolism based on metabonomics.Scientific reports · 2025Article
- Variations of the metabolome in the digestive system of Antarctic krill, Euphausia superba, between summer and autumn.PloS one · 2025Article
- Article
- Review
14 more citing papers are in PubMed but not listed here.
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The three essential branched-chain amino acids (BCAAs), leucine, isoleucine and valine, share the first enzymatic steps in their metabolic pathways, including a reversible transamination followed by an irreversible oxidative decarboxylation to coenzyme-A derivatives. The respective oxidative pathways subsequently diverge and at the final steps yield acetyl- and/or propionyl-CoA that enter the Krebs cycle. Many disorders in these pathways are diagnosed through expanded newborn screening by tandem mass spectrometry. Maple syrup urine disease (MSUD) is the only disorder of the group that is associated with elevated body fluid levels of the BCAAs. Due to the irreversible oxidative decarboxylation step distal enzymatic blocks in the pathways do not result in the accumulation of amino acids, but rather to CoA-activated small carboxylic acids identified by gas chromatography mass spectrometry analysis of urine and are therefore classified as organic acidurias. Disorders in these pathways can present with a neonatal onset severe-, or chronic intermittent- or progressive forms. Metabolic instability and increased morbidity and mortality are shared between inborn errors in the BCAA pathways, while treatment options remain limited, comprised mainly of dietary management and in some cases solid organ transplantation.
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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.