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Cited by 280Metabolism and Genetic DisordersAmino Acid Enzymes and MetabolismBiochemical Acid Research Studies

The DOI matches its Crossref record; 52 of the 53 references it cites were found in a registry or an index.

Maple syrup urine disease: mechanisms and management

Open access
Blackburn, Patrick, Gass, Jennifer, Pinto e Vairo, Filippo, Farnham, Kristen, Atwal, Herjot, Macklin, Sarah, Klee, Eric, Atwal, Paldeep·2017·The Application of Clinical Genetics
DOI 10.2147/tacg.s125962PMC PMC5593394
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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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  1. [50]Strauss KA Wardley B Robinson D Classical maple syrup urine disease and brain development: Principles of management and formula design Mol Genet Metab 2010 99 4 333 345 20061171 PMC3671925

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Metadata

Authors
Blackburn, P., Gass, J., Pinto e Vairo, F., Farnham, K., Atwal, H., Macklin, S., Klee, E., & Atwal, P.
Affiliations
  • Mayo Clinic in Florida (US)
  • Mayo Clinic (US)
Corresponding author
Atwal, Paldeep
ORCID
Venue
The Application of Clinical Genetics
Publisher
Informa UK Limited
Published
2017-09
Volume
Volume 10
Pages
57-66
ISSN
1178-704X (ISSN-L)
DOI
10.2147/tacg.s125962
PMC
PMC5593394
OpenAlex
W2752428554
Cited by
280
References
53
Citations by year
2026: 26 · 2025: 38 · 2024: 55 · 2023: 32 · 2022: 31 · 2021: 42 · 2020: 27 · 2019: 17 · 2018: 10
FWCI
1.93
Type
journal article
Language
en
Open access
Licence
Locations
  • The Application of Clinical Genetics (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • Dove Medical Press (Taylor and Francis Group) (submittedVersion, cc-by-nc)
Funders
  • Mayo Clinic
  • Center for Individualized Medicine, Mayo Clinic
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Biochemical Acid Research Studies
Keywords
maple syrup urine disease, branched-chain amino acids, inborn errors of metabolism, alloisoleucine, clinical variants, neonatal presentation, neurological complications, dietary restriction, metabolic monitoring, newborn screening

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