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...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Bioscientifica
2023-04-01
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Series: | Endocrinology, Diabetes & Metabolism Case Reports |
Online Access: | https://edm.bioscientifica.com/view/journals/edm/2023/1/EDM22-0413.xml |