The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review

BMC Oral Health. 2024 Mar 21;24(1):362. doi: 10.1186/s12903-024-04135-7.


Background and objectives: The literature about oral manifestations and dental management in maple syrup urine disease (MSUD) is sparse. The aim of this report is to present a new case of MSUD with special emphasis on oral findings and to review the relevant literature.

Method: A case report of a 4-year-old boy with MSUD was described according to the CARE guidelines for describing case reports. Scoping review of relevant literature was performed, according to the PRISMA-ScR guidelines, by searching PubMed, Medline, Embase, and the grey literature for articles describing dental management and/or oral manifestations in MSUD.

Results: The initial search identified 219 articles, but only 4 met the inclusion criteria. Rampant caries and plaque induced gingivitis were the main oro-dental findings in MSUD. Other oral findings included enamel hypoplasia, skeletal abnormalities, and abnormal oral behaviors. Disease-related factors appeared to play a major role in the development of the observed oral phenotype.

Conclusion: Oral health in MSUD seems to be influenced by the reliance on semi-synthetic diet and associated neurocognitive complications. Tailored oral health promotional interventions should be included in the multidisciplinary management of patients with MSUD.

Keywords: Anesthesia; Branched chain amino acids; Ketonuria; Maple syrup; Oral.

Publication types

  • Systematic Review
  • Review
  • Case Reports

MeSH terms

  • Child, Preschool
  • Dental Care
  • Humans
  • Male
  • Maple Syrup Urine Disease* / complications
  • Maple Syrup Urine Disease* / genetics
  • Phenotype