Vail · Journal of child neurology 2026 · Retrospective cohort study · n=150

The Role of Carnitine Monitoring and Supplementation in Children With Epilepsy on a Ketogenic Diet.

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Level 4 - case-series / case-control

Single-center retrospective case series/observational cohort

PubMed 40697002 · doi:10.1177/08830738251356537 · record verified 2026-08-30

What was done

Researchers retrospectively reviewed 150 consecutive pediatric patients treated with the ketogenic diet at Johns Hopkins Hospital over an 8-year period. Carnitine concentrations (total and free carnitine) and supplementation patterns were analyzed alongside concurrent antiseizure medications (specifically valproate), ketogenic diet parameters, and seizure outcomes at 3 months.

What was found

Carnitine levels were measured in 105 of 150 patients (70%). In unsupplemented children, total carnitine remained stable (46.2 [SD 12] to 44.9 [SD 19] µmol/L, P = .80), whereas free carnitine significantly decreased from 35.8 (SD 12) to 20.1 (SD 11) µmol/L (P < .001). Patients on valproate had lower baseline total carnitine compared to those not on valproate (40.7 [SD 20] vs 52.0 [SD 15] µmol/L, P = .02). At 3 months, 83% of children with normal total carnitine achieved >50% seizure reduction compared to 60% with hypocarnitinemia (P = .06). Carnitine was supplemented in 36 patients (24%); 12 (33%) had documented clinical benefit, but supplementation showed no significant group-level difference in seizure control or ketosis.

Why it matters

This study provides longitudinal data showing that free carnitine decreases over time during ketogenic diet therapy and is lower at baseline with concurrent valproate use, helping inform monitoring protocols for pediatric epilepsy.

Limits

The study is limited by its retrospective, single-center design, lack of standardized carnitine testing (30% missing measurements), and non-randomized supplementation driven by clinician discretion, introducing confounding by indication.

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