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

SUMMARY: 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...

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Detalles Bibliográficos
Autores principales: Lai, Valerie, Shahidi, Mariam, Chan, Alicia, Jain-Ghai, Shailly
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10083644/
https://www.ncbi.nlm.nih.gov/pubmed/36988218
http://dx.doi.org/10.1530/EDM-22-0413