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Maple syrup urine disease: mechanisms and management
Open accessAbstract
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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“BCAA catabolism is repressed in maple syrup urine disease, which is caused by mutations to branched-chain keto acid dehydrogenase (BCKDH) and causes dysfunction of immune cells, skeletal muscle and the central nervous system.48”
From The multifaceted contributions of mitochondria to cellular metabolism (2018) · cites this paper as [48]
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Identification of gene mutations in six Chinese patients with maple syrup urine disease
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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
- Venue
- The Application of Clinical Genetics
- Publisher
- Informa UK Limited
- Published
- 2017-09
- Volume
- Volume 10
- Pages
- 57-66
- ISSN
- 1178-704X (ISSN-L)
- 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
- gold
- doi.org
- 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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