Mitochondrial HMG ‐ CoA Synthase Deficiency Presenting as Pediatric Metabolic Stroke: A Case Report of a Novel Homozygous HMGCS2 (p. Ile56Asn ) Variant
Year: 2025
Type: article
Study design: Case Report
Abstract: 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.
Source: Clinical Case Reports
DOI: 10.1002/ccr3.71622
Institutions: Palestine Polytechnic University, Al-Ahli Hospital, Ahli Hospital
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $1,820
OpenAlex ID: W4417179963