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Peer-reviewedCC BY-NC-NDJCEM case reports

Serial metabolic profiling and liver transplantation in concurrent maple syrup urine disease and type 1 diabetes.

  • Eileen Y Wang1
  • G Stephen DeCherney1
  • Michael C Adams2
  • Ashlee R Stiles3,4
  • Monika Williams2
  • Brooke C Matson1
4 affiliations
  1. 1Department of Medicine, Division of Endocrinology and Metabolism, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA.
  2. 2Department of Pediatrics, Division of Pediatric Genetics and Metabolism, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA.
  3. 3Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27710, USA.
  4. 4Biochemical Genetics Laboratory, Duke University Health System, Durham, NC 27713, USA.
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Abstract

Maple syrup urine disease (MSUD) and type 1 diabetes (T1D) require careful attention to dietary composition and predispose to ketoacidosis. The co-occurrence of these metabolic disorders therefore compounds these challenges. Here, we present a 29-year-old man with prenatally diagnosed MSUD and childhood-onset T1D who, despite extreme metabolic vulnerability, did well until his mid-20s, when he was admitted to the hospital 8 times for metabolic decompensation, with the latter 7 times occurring within a 12-month period. Most laboratory evaluations were suggestive of MSUD crisis rather than diabetic ketoacidosis. Ultimately, the patient underwent liver transplantation for definitive treatment of MSUD. The case illustrates the complexity of comanaging T1D with an inborn error of metabolism requiring dietary modification that challenges glycemic management.

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Cite

BibTeXRIS
BibTeX
@article{wang2026serial,
  title = {{Serial metabolic profiling and liver transplantation in concurrent maple syrup urine disease and type 1 diabetes.}},
  author = {Eileen Y Wang and G Stephen DeCherney and Michael C Adams and Ashlee R Stiles and Monika Williams and Brooke C Matson},
  journal = {JCEM case reports},
  year = {2026},
  month = nov,
  doi = {10.1210/jcemcr/luag344},
  url = {https://europepmc.org/article/MED/42996828},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Serial metabolic profiling and liver transplantation in concurrent maple syrup urine disease and type 1 diabetes.
AU  - Eileen Y Wang
AU  - G Stephen DeCherney
AU  - Michael C Adams
AU  - Ashlee R Stiles
AU  - Monika Williams
AU  - Brooke C Matson
PY  - 2026
DA  - 2026/11/06
JO  - JCEM case reports
DO  - 10.1210/jcemcr/luag344
UR  - https://europepmc.org/article/MED/42996828
AB  - Maple syrup urine disease (MSUD) and type 1 diabetes (T1D) require careful attention to dietary composition and predispose to ketoacidosis. The co-occurrence of these metabolic disorders therefore compounds these challenges. Here, we present a 29-year-old man with prenatally diagnosed MSUD and childhood-onset T1D who, despite extreme metabolic vulnerability, did well until his mid-20s, when he was admitted to the hospital 8 times for metabolic decompensation, with the latter 7 times occurring within a 12-month period. Most laboratory evaluations were suggestive of MSUD crisis rather than diabetic ketoacidosis. Ultimately, the patient underwent liver transplantation for definitive treatment of MSUD. The case illustrates the complexity of comanaging T1D with an inborn error of metabolism requiring dietary modification that challenges glycemic management.
SN  - 2755-1520
ER  -