Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient.

ABSTRACT:

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 association of mutation in the HMGCS2 gene with HMGCSD in a patient with atypical symptoms.

Methods

The clinical and genetic features of an 8-months-old girl with HMGCSD were evaluated. Molecular genetic testing was conducted using whole-exome sequencing (WES) in order to identify potential disease-causing mutation. The WES finding was confirmed by the polymerase chain

SUBMITTER: Heidari M 

PROVIDER: S-EPMC7667326 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature