Abstract
Mitochondrial 3-hydroxymethylglutaryl-CoA synthase-2 (HMGCS2) is the main enzyme involved in ketogenesis. It is an essential enzyme for the catalysis of β-oxidation-derived-Acetyl-CoA and acetoacetyl Co-A to produce β-hydroxy-β-methylglutaryl-CoA (HMG-CoA) and free coenzyme A. The deficiency of this enzyme (3-hydoxy-3-methylglutaryl-CoA synthase) is a very rare metabolic disorder with limited cases described in the literature. The manifestations of this disease include hypoketotic hypoglycaemia, metabolic acidosis, lethargy, hepatomegaly with fatty liver and encephalopathy. We report a middle childhood male who presented with hepatosplenomegaly, lymphadenopathy and bicytopenia. The case was diagnosed by the whole exome sequencing which revealed a homozygous missense variant of uncertain significance in HMGCS2 gene.
Original language | English |
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Article number | e257011 |
Journal | BMJ Case Reports |
Volume | 16 |
Issue number | 11 |
DOIs | |
Publication status | Published - Nov 6 2023 |
Keywords
- Haematology (incl blood transfusion)
- Metabolic disorders
- Blood Coagulation Disorders
- Ketone Bodies/metabolism
- Mitochondria/metabolism
- Humans
- Hydroxymethylglutaryl-CoA Synthase/genetics
- Male
- Mutation, Missense
- Acidosis
- Child
ASJC Scopus subject areas
- General Medicine