SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management.

BACKGROUND: Primary systemic carnitine deficiency (SCD) is an autosomal-recessive disorder caused by SLC22A5 gene mutation resulting in defective cellular carnitine transporter organic cation transporter 2. Defective carnitine transporter causes renal carnitine wasting and low serum carnitine. Carnitine is an essential cofactor for the transportation of long-chain fatty acids into the mitochondria. Lacking of carnitine may cause metabolic decompensation and sudden death when the patient is exposed to prolonged fasting before an operation.

METHODS: An asymptomatic 9-month-old boy with SCD diagnosed by local hospital was referred to the authors' hospital for incomplete cleft palate plastic surgery. Due to potential metabolic decompensation from prolonged fasting before the surgery, the patient underwent proper perioperative management.

RESULTS: The operation was successful and subsequent clinical course was fine. The patient was discharged on postoperative day 3.

CONCLUSION: With proper perioperative management, patients with SCD and cleft palate can survive from prolonged fasting time before and during operation without metabolic decompensation manifestations. Early recognition of SCD and perioperative management can be lifesaving in preoperative infants with SCD.