ReviewThe application of clinical genetics2017
Maple syrup urine disease: mechanisms and management.
Review in The application of clinical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 132 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
132 citing papers in PubMed, 2 syntheses or guidelines pooled it, 256 citations in OpenAlex.
- Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.BMC medical genomics · 2025Pooled it
- Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach.Orphanet journal of rare diseases · 2025Guideline
- A Novel Dietary Intervention Reduces Circulatory Branched-Chain Amino Acids by 50%: A Pilot Study of Relevance for Obesity and Diabetes.Nutrients · 2020Trial
- Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases.Health science reports · 2026Review
- Immune Dysregulation in Branched Chain Organic Acidemias.Journal of inherited metabolic disease · 2026Review
- Treatment strategies, radiological recovery, and neurodevelopmental outcomes in paediatric Maple Syrup Urine Disease: a 20-year single-centre experience from Türkiye.Metabolic brain disease · 2026Article
- Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice.Orphanet journal of rare diseases · 2026Review
- Early laboratory indicators of acute metabolic decompensation during emergency presentations in pediatric maple syrup urine disease.European journal of pediatrics · 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
- A Segment Anything Model-based tool for semi-automated behavioural analysis of Drosophila and other model organisms.Disease models & mechanisms · 2026Article
- Case Report: Graves' disease in a toddler with maple syrup urine disease: therapeutic challenges and surgical resolution.Frontiers in pediatrics · 2026Article
- Relationship of Filipino MSUD Children's Nutrient Intake, Nutritional Status, and Leucine Level, and Caregiver's Nutrition Knowledge, Attitudes, and Practices.Acta medica Philippina · 2026Article
- A new frame shift pathogenic variant (c.773dupT) in theCase reports in perinatal medicine · 2026Article
- Exploratory benchmarking of AI-generated diet plans for inherited protein metabolism disorders: a simulation-based evaluation of nutritional accuracy and clinical safety.Frontiers in nutrition · 2026Article
- A Colorimetric Multimetabolite Assay for Quantitative Measurement of Keto Acids in Urine for At-Home Monitoring of Metabolic Disorders.Journal of analytical methods in chemistry · 2026Article
- Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies.Journal of clinical medicine · 2025Review
- Application of high-resolution mass spectrometry profiling towards the diagnosis and acute management of maple syrup urine disease.Molecular genetics and metabolism reports · 2025Article
- Beyond Protein Building Blocks: A Review of Biological Roles and Therapeutic Potential of Free Amino Acids.International journal of molecular sciences · 2025Review
- Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.Orphanet journal of rare diseases · 2025Review
- Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.Orphanet journal of rare diseases · 2025Article
72 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated. Treatment consists of dietary restriction of BCAAs and close metabolic monitoring. Clinical outcomes are generally good in patients where treatment is initiated early. Newborn screening for MSUD is now commonplace in the United States and is included on the Recommended Uniform Screening Panel (RUSP). We review this disorder including its presentation, screening and clinical diagnosis, treatment, and other relevant aspects pertaining to the care of patients.
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Registered trials
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.