Three Patients with CPT1A Deficiency: Literature Review and Case Series

Document Type : Case Report

Authors

1 Department of Pediatrics, Shahid Sadoughi Hospital, Shahid sadoughi University of Medical Sciences, Yazd, Iran

2 Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

3 Department of Clinical Biochemistry, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

Abstract

Background: Carnitine palmitoyltransferase 1A deficiency is a rare genetic disorder with autosomal recessive inheritance pattern of fatty acid metabolism secondary to CPT1A mutation. Several dozen infants and children have been described with a deficiency of the liver and kidney CPT1 isoenzyme (CPT1-A). Clinical manifestation includes fasting-induced hypoketotic hypoglycemia, occasionally with extremely abnormal liver function test (LFT) and rarely with renal tubular acidosis. Acyl carnitine analysis has been the main method for the diagnosis of CPT1A deficiency.  Prompt treatment of hypoglycemia includes intravenous fluid containing 10% dextrose. To prevent hypoglycemia, infants should eat frequently during the day and have cornstarch continuously at night. Fasting should not last more than 12 hours during illness, surgery, or medical procedures.
Case Presentation: We reported three patients with CPT1A deficiency presented with hypoglycemia and Reye like syndrome in early childhood that with early diagnosis and treatment they are well in follow-up.
Conclusion: Prognosis of this genetic disorder will be good with appropriate treatment.

Keywords

References

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World Journal of Peri and Neonatology
Volume 3, Issue 1
March 2020
Pages 37-39

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History

  • Receive Date: 30 December 2020
  • Accept Date: 30 December 2020

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