Case report details a novel HMGCS2 deficiency variant resulting in metabolic stroke and encephalopathy in a child, highlighting the need for rapid evaluation.
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.
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Alshami et al. (2025) studied this question.
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