First report of type 2 diabetes mellitus in an adult with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency

3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) lyase deficiency is an inborn error of metabolism resulting in a lack of ketogenesis and leucine catabolism. Hallmarks of decompensation include hypoglycemia without ketosis (or hypoketosis), metabolic acidosis, and hyperammonemia. Management includes...

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Bibliographic Details
Main Authors: Valerie Lai, Mariam Shahidi, Alicia Chan, Shailly Jain-Ghai
Format: Article
Language:English
Published: Bioscientifica 2023-04-01
Series:Endocrinology, Diabetes & Metabolism Case Reports
Online Access:https://edm.bioscientifica.com/view/journals/edm/2023/1/EDM22-0413.xml