{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Medicine, Division of Endocrinology and Metabolism, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA.",
    "Department of Pediatrics, Division of Pediatric Genetics and Metabolism, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA.",
    "Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27710, USA.",
    "Biochemical Genetics Laboratory, Duke University Health System, Durham, NC 27713, USA."
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Eileen Y Wang",
      "orcid": "0009-0008-3796-4635"
    },
    {
      "affs": [
        0
      ],
      "name": "G Stephen DeCherney"
    },
    {
      "affs": [
        1
      ],
      "name": "Michael C Adams",
      "orcid": "0000-0002-4716-4673"
    },
    {
      "affs": [
        2,
        3
      ],
      "name": "Ashlee R Stiles"
    },
    {
      "affs": [
        1
      ],
      "name": "Monika Williams"
    },
    {
      "affs": [
        0
      ],
      "name": "Brooke C Matson",
      "orcid": "0000-0003-1979-1562"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/fya5kptjj2dzr.bib",
  "cited_by": 0,
  "doi": "10.1210/jcemcr/luag344",
  "fulltext_url": "https://europepmc.org/articles/PMC13740500",
  "id": "fya5kptjj2dzr",
  "issns": [
    "2755-1520"
  ],
  "landing_url": "https://europepmc.org/article/MED/42996828",
  "language": "eng",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1308|Metabolism and Genetic Disorders"
    ]
  ],
  "openalex": "W7225415551",
  "pdf_url": "https://europepmc.org/articles/PMC13740500?pdf=render",
  "pmcid": "PMC13740500",
  "pmid": "42996828",
  "published": "2026-11-06",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/fya5kptjj2dzr.ris",
  "sources": [
    {
      "first_seen": "2026-11-09T15:20:34Z",
      "native_id": "MED:42996828",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42996828"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "journal-openalex:2712|Pituitary Gland Disorders and Treatments",
      "subfield": "endocrinology-metabolism"
    }
  ],
  "title": "Serial metabolic profiling and liver transplantation in concurrent maple syrup urine disease and type 1 diabetes.",
  "title_text": "Serial metabolic profiling and liver transplantation in concurrent maple syrup urine disease and type 1 diabetes.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-09T15:20:34Z",
  "url": "https://research.draconitic.com/paper/fya5kptjj2dzr",
  "venue": "JCEM case reports",
  "versions": []
}