A recent study published in Case Reports in Genetics describes an infant with mitochondrial DNA depletion syndrome 13 (MTDPS13), a disease similar to thymidine kinase 2 deficiency (TK2d), who experienced improved biomarkers while on a ketogenic diet.
A ketogenic diet is a high-fat, low-carbohydrate diet intended to make the body burn fat for energy instead of glucose, a process called ketosis.
“This is the first documented report of the use of a [ketogenic diet] in a preterm neonate with this mitochondrial disorder during the early days of life,” the authors wrote. “Early initiation of a ketogenic regimen may help control metabolic symptoms and improve survival, including in infants with severe mutations of MTDPS13.”
The infant was born at 31 weeks and three days gestation via cesarean section, and had low muscle tone (hypotonia) and increased levels of lactate. However, testing ruled out secondary causes of metabolic acidosis and organic acidemias. Treatment with sodium bicarbonate was unsuccessful.
The patient displayed elevated levels of lactic, pyruvic and 2-hydroxybutyric acids, along with increased levels of select amino acids. Genetic testing revealed a mutation in the FBXL4 gene, confirming the diagnosis of MTDPS13.
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The physicians prescribed a ketogenic diet via intravenous administration and a nasogastric feeding tube. They also administered high doses of vitamins including coenzyme Q10, biotin, thiamine and riboflavin.
By day 12, the patient gained 250 grams and tolerated the ketogenic diet well. Lactate levels also decreased steadily.
Two months after birth, the infant displayed notable improvements in sucking and ability to feed orally. He was discharged 10 weeks after birth, at which point he was able to take all nutrition by mouth.
While at home, the patient continued the diet using a mixture of water, ketogenic formula and infant formula. By his 10-day follow-up appointment, he was gaining an average of 25 grams per day.
At four months of age, however, the infant developed respiratory distress, with a high heart rate, lactic acidosis and inflammation. He was diagnosed with sepsis and later died at six months old.
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