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Background: Leigh syndrome is a devastating neurodegenerative disease, the most common pediatric presentation of mitochondrial disease, with an estimated prevalence of about 1 per 40,000 live births. Progression is often episodic, and typically results in death by 3 years of age. Objective: To investigate the therapeutic efficacy of Leigh syndrome whose candidate genes involve mitochondrial cofactor metabolism. Methods: Patients who meet the criteria that first diagnosed as Leigh syndrome or Leigh like syndrome, and then candidate genes involve mitochondrial cofactor metabolism, were collected, treatment with high dosage of thiamine (at least 10mg/kg.d), CoQ10 (10-50mg/kg.d), biotin (10-30mg/d), and/or lipoic acid (150mg/d) was started since the genetic diagnosis was established, and the patients were followed-up for therapeutic efficacy. Results: In our study, there are 18 cases of Leigh syndrome whose candidate genes involve mitochondrial cofactor metabolism, including PDHA1 (n=12), SLC19A3 (n=3), TPK1, COQ7, and MECR, respectively. The follow-up period was from 6 months to 4 years and 5 months, and the prognosis varied from each other. The patient with TPK1 gene mutation had the best effect on the treatment with thiamine, then was SLC19A3 and PDHA1, while CoQ10 for COQ7 mutation and lipoic acid for MECR mutation seems to have stabilised disease progression, no obvious improvement, and no deterioration. Conclusions: Some Leigh syndrome involving mitochondrial cofactor metabolism are treatable, so it is important to confirm genetic diagnosis as soon as possible, and special treatment should be started depending on the genetic defect.

Leigh syndrome; cofactor; treatment; genetic diagnosis