Work

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

Year: 2026

Type: article

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.

Source: JCEM Case Reports

DOI: 10.1210/jcemcr/luag344

Authors: Eileen Y Wang, G Stephen DeCherney, Michael C Adams, Ashlee R Stiles, Monika Williams, Brooke C Matson

Institutions: University of North Carolina at Chapel Hill, Duke University, Duke Medical Center, Duke University Health System

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $930