The effectiveness of the ketogenic diet in children with pyruvate dehydrogenase complex deficiency

Abstract

Mitochondrial diseases are a heterogeneous group with a progressive course and a high probability of lethal outcome. Pyruvate dehydrogenase complex deficiency (PDHd) is one of the few mitochondrial diseases with pathogenetic therapy in the form of ketodiet and thiamine supplementation. We present the experience of the Almazov National Research Medical Center, where 7 patients with PDHd are observed. The ketodiet was administered in 6 cases; one child with neonatal lactic acidosis died before diagnosis. Two children started the diet parenterally in the ICU, three were inpatient for a week, and one was outpatient for a month. Target blood ketone and lactate levels were achieved in all cases. Two children with neonatal lactic acidosis were stabilized and discharged. One showed developmental progress while the other had no psychomotor development and developed seizures. A girl with epileptic encephalopathy improved neurologically with the diet, but seizures persisted. Three girls with cerebral palsy had the best therapeutic response, two began walking. The target ketone level was achieved with different keto ratios and different proportions of medium-chain triglycerides in the diet. Ketodiet is an effective treatment method for PDHd. The best result is achieved with early initiation of therapy and with a milder clinical phenotype.