Objective: To investigate the clinical effects of levocarnitine in the treatment of neonatal primary carnitine deficiency. Methods: Retrospective analysis was performed on effect of levocarnitine replacement therapy in 18 newborns diagnosed as primary carnitine deficiency (PCD) in the newborn screening center of Liuzhou Maternity and Child Healthcare Hospital from Dec. 2012 to Mar. 2019

and 20 newborns with normal free alkali screened by tandem mass spectrometry were selected as the control group. Children were given oral levocarnitine replacement therapy at initial dose of 100 mg/kg per day

and blood acylcarnitine levels were measured by tandem mass spectrometry after two weeks. Changes of free carnitine and acyl carnitine in children with PCD were compared before and after treatment. The dosage of levocarnitine was adjusted according to the clinical manifestations and the levels of free carnitine. Results: The serum levels of free carnitine in 18 children with PCD before treatment was lower than those in the control group (P<0.05). After treatment

the levels of free carnitine and other acylcarnitine in 18 children with PCD were higher than those before treatment (P<0.05)

and there was no significant difference compared with healthy newborns (P>0.05). At present

all the 18 children have been followed up in the outpatient department

the growth

intelligence and motor development are normal

and there are no abnormalities in blood glucose

blood ammonia

liver function

creatine kinase and cardiac ultrasound. Of the 18 children

10 cases continued treatment with 100 mg/kg of oral solution of levocarnitine

6 cases were given 200 mg/kg

and 2 cases were given 300 mg/kg. Conclusion: Levocarnitine is effective in the treatment of PCD

which needs to be individualized according to the levels of free carnitine in children.