The ketogenic diet is effective and relatively well-tolerated in children with mitochondrial diseases and other inborn errors of metabolism, according to a study recently published in Advances in Clinical and Experimental Medicine. These findings may hold relevance for thymidine kinase 2 deficiency (TK2d), a mitochondrial disease.
Among the 44 participants, 84% reported clinical benefits, ranging from seizure reduction to improvements in functional abilities.
The ketogenic diet, which prioritizes high-fat and low-carbohydrate meals, is an established treatment method in epilepsy and other neurological conditions. This diet remains a cornerstone of care for pyruvate dehydrogenase complex deficiency (PDCD) and glucose transporter type 1 deficiency (GLUT1D), two inborn errors of metabolism.
The study included 17 patients with mitochondrial disease, the majority of whom had a diagnosis of Leigh syndrome. Participants began the ketogenic diet at a median age of 53 months, with a median treatment duration of 11 months. The study also included 20 individuals with PDCD or GLUT1D and seven individuals with other inborn errors of metabolism.
Read more about TK2d treatment and care
Among the 23 individuals experiencing seizures, 17 reported a greater than 50% reduction in seizure frequency. Moreover, four patients showed a complete reduction in seizures while on the ketogenic diet. Seven individuals successfully reduced or discontinued use of antiepileptic drugs, including one patient with mitochondrial disease.
Caregivers reported improvements in exercise tolerance in 51.2% of evaluable cases. While the researchers did not use standardized tests, caregiver reports also indicated improved cognitive or psychomotor function in eight of 36 patients.
Of the 29 children with abnormal muscle tone before the diet, 27.6% experienced improvements. The study reported improvements in ataxia (loss of control over muscles) and involuntary movements, too.
In terms of biochemical improvements, 84.6% of children with mitochondrial disease showed reductions in lactic acid levels.
At the time of publication, 20 participants remained on the ketogenic diet, including 17.6% of those with a mitochondrial disease. Reasons for discontinuation included a lack of efficacy, adverse events or death due to disease progression. Adverse events resulting in discontinuation included acute pancreatitis, fatty liver and gastrointestinal symptoms.
“Ketogenic diet should be considered not only for refractory epilepsy but also for
selected metabolic indications,” the authors concluded. “Adverse effects are typically manageable, although gastrointestinal intolerance may limit long-term use.”
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