Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications.

doi:10.1016/j.gim.2025.101484

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Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2025

Grünert Sarah C, Baumgartner Matthias R, Bouchereau Juliette, Burlina Alberto, Clayton Peter T, de Las Heras Javier, Dionisi-Vici Carlo, Gemperle-Britschgi Corinne, Haase Claudia, Korman Stanley H, Krämer Johannes, Kühlwein Eva, Maier Esther M, Maiorana Arianna, Schiff Manuel, Schmid Carl Ulrich, Tangeraas Trine, Yamamoto Raina, Zschocke Johannes, Sass Jörn Oliver

Abstract excerpt

PURPOSE: Ketone bodies represent an important energy source and can contribute much to the energy supply of the brain. Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency (HMGCS2D) is an autosomal recessive disorder of ketogenesis caused by biallelic variants in HMGCS2. Only 59 patients with this disorder have been reported so far. METHODS: We performed a comprehensive literature search to...

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Topics

Child
Child, Preschool
Female
Humans

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Infant

Infant, Newborn

Male

Hydroxymethylglutaryl-CoA Synthase

Ketone Bodies

Mitochondria

Mitochondrial Diseases

Mutation

Source

Open in PubMed

Identifiers

PMID: 40515583
DOI: 10.1016/j.gim.2025.101484

Genes

HMGCS2

Variants

Provenance

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