Article
Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient.
Molecular genetics & genomic medicine - 1 Nov 2020
Heidari Masoud, Soleyman-Nejad Morteza, Isazadeh Alireza, Shapouri Javad, Taskhiri Mohammad Hossein, Ahangari Roghayyeh, Mohamadi Ali Reza, Ebrahimi Masoumeh, Karimi Hadi, Bolhassani Manzar, Karimi Zahra, Heidari Mansour
Abstract excerpt
BACKGROUND: 3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase 2 gene (HMGCS2) encodes a mitochondrial enzyme catalyzing the first reaction of ketogenesis metabolic pathway which provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are responsible for HMG-CoA synthase deficiency (HMGCSD). The aim of present study was to investigate the...
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