Objective: To summarize the diagnosis and treatment experience of carnitine palmitoyltransferase 2 (CPT2) deficiency. Methods: The clinical data and CPT2 gene test results in one child with CPT2 deficiency were retrospectively analyzed

and the related literature were review. Results: The twice of rhabdomyolysis syndrome were observed in a one year and seven month male child. Gene sequencing showed that there were compound heterozygous mutations in CPT2 gene c.338C>T(p.S113L) and c.1711C>A(p.P571T)

c.338C>T(p.S113L) inherited from the mother and c.1711C>A(p.P571T) inherited from the father. And the final diagnosis of CPT2 deficiency was confirmed. Conclusion: Children with recurrent rhabdomyolysis syndrome in younger ages need to be alert to genetic metabolic diseases such as CPT2 deficiency

and gene analysis can be used to early detection and early prevention.