Journal of Inherited Metabolic Diseases

Delayed mitochondrial disease diagnosis is usually a recognition problem, not a testing problem. When seizures, stroke-like episodes, hypotonia, developmental delay and constipation accumulate across prior notes, revisit the timeline and raise neurology or genetics suspicion earlier.

RADs on EEG should widen, not close, the differential in refractory epilepsy. When mixed seizure types sit beside this pattern, add metabolic testing such as urinary organic acids and consider SDHA-related complex II deficiency rather than assuming POLG disease alone.

Rare, but not just academic. The episode explains why triheptanoin reduces metabolic crises yet leaves retinopathy and neuropathy behind, then makes the case for elamipretide through cardiolipin remodelling and biomarker thinking.