Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases

J Inherit Metab Dis. 2004;27(4):487-98. doi: 10.1023/B:BOLI.0000037354.66587.38.


We reviewed the medical records of all patients with confirmed mitochondrial diseases treated with any or all of thiamin, riboflavin, coenzyme Q, vitamin C (approximately 10 mg/kg per day) and a high-fat diet (50-60% of caloric intake) between 1997 and 2003. There were 15 patients (9 male): 10 had enzymatic deficiency and 10 had a molecular diagnosis. Age at diagnosis was 11 months to 17 years 10 months. Treatment was commenced at time of clinical diagnosis in 12 patients. Follow-up period was 3 days to 7 years (median 22 months). Improvement was reported in 9 patients, of whom 4 attained further developmental skills, but this was only temporary in 6 patients. Five patients died during the follow-up period (3 days to 7 years). Patients with the 3243A > G mutation showed no significant change in the course of their disease, except for fewer migraine attacks. Of the six patients who had seizures, one has had a significant reduction in the severity of the seizures and one has had no further seizures. Plasma lactate levels were noncontributory. We conclude that high-dose vitamin and cofactor treatment and, where applicable, high-fat diet, are well tolerated and possibly effective in the short term, but ineffective in the longer term.

MeSH terms

  • Adolescent
  • Ascorbic Acid / administration & dosage
  • Child
  • Child, Preschool
  • DNA, Mitochondrial / genetics
  • Dietary Fats / administration & dosage*
  • Female
  • Humans
  • Infant
  • Lactic Acid / blood
  • Male
  • Mitochondrial Diseases / diet therapy*
  • Mitochondrial Diseases / drug therapy*
  • Mitochondrial Diseases / genetics
  • Mutation
  • Riboflavin / administration & dosage
  • Thiamine / administration & dosage
  • Ubiquinone / administration & dosage*
  • Vitamins / administration & dosage*


  • DNA, Mitochondrial
  • Dietary Fats
  • Vitamins
  • Ubiquinone
  • Lactic Acid
  • Ascorbic Acid
  • Riboflavin
  • Thiamine