Mitochondrial <scp>HMG</scp> ‐ <scp>CoA</scp> Synthase Deficiency Presenting as Pediatric Metabolic Stroke: A Case Report of a Novel Homozygous <scp>HMGCS2</scp> (p. <scp>Ile56Asn</scp> ) Variant
Mitochondrial HMG-CoA synthase deficiency should be suspected in infants with hypoketotic hypoglycemia, metabolic acidosis, and basal ganglia lesions. A 2-year-old boy with a novel HMGCS2 variant presented with refractory seizures and encephalopathy, highlighting the need for rapid metabolic and genetic evaluation for timely management.
Authors
- Osama Hroub (ORCID: https://orcid.org/0009-0006-6889-2932)
- Ahmad G Hammouri (ORCID: https://orcid.org/0000-0003-2919-4980)
- Osama Atawneh
- Mohammad Hroub
- Ibrahim Alzatari
- Saja Abouodeh
- Yasmeen Alshami (ORCID: https://orcid.org/0009-0004-9211-2380)
- Zahra Makhamre (ORCID: https://orcid.org/0009-0006-5172-2734)
Institutions
- Hebron University (PS)
- Bethlehem University (PS)
- Palestine Polytechnic University (PS)
- Al-Ahli Hospital (QA)
Publication Details
- Journal
- Clinical Case Reports
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1002/ccr3.71622
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00