Carnitine Palmitoyl Tranferase Type 1 Deficiency in Fatty acid oxidation disorder: A Case report

Authors

  • Nurun Naher Registrar, Department of Paediatrics, Apollo Hospital, Dhaka
  • Laila Nurun Nahar Registrar, Department of Paediatrics, Apollo Hospitals Dhaka
  • Sabina Sultana Consultant, Department of Paediatrics, Apollo Hospitals, Dhaka
  • Abdul Matin Assistant Professor, Department of Pediatrics, Shaheed Suhrawardy Medical College and Hospital, Dhaka
  • Md Hasan Jamal Fakir Assistant Professor, Department of Pediatrics, Comilla Medical College, Comilla
  • Md Rafiqul Islam Associate Professor, Department of Pediatrics, Shaheed Suhrawardy Medical College and Hospital, Dhaka

DOI:

https://doi.org/10.3329/jssmc.v6i1.31491

Keywords:

Carnitine palmitoyltranferase 1, inborn error of metabolism

Abstract

Carnitine palmitoyltransferase 1(CPT-1) catalyzes the formation of acylcarnitine, which is the first step in the oxidation of long chain fatty acid in the mitochondria. CPT-1 deficiency is an inborn error of metabolism. Reported patient with CPT -1 deficiency was a 16 months old boy present with hypoketotic hypoglycaemia, hepatomegaly with raised liver transaminases, hyperamminaemia, convulsion and unconsciousness. Diagnosis was established by IMD panel study. Treatment was done by correction of hypoglycemia, avoidance of hypoglycemia by ensuring frequent feeding, avoidance of prolonged fasting, treatment of infection & other supportive measures.

J Shaheed Suhrawardy Med Coll, June 2014, Vol.6(1); 38-40

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Author Biography

Nurun Naher, Registrar, Department of Paediatrics, Apollo Hospital, Dhaka



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Published

2017-03-07

How to Cite

Naher, N., Nahar, L. N., Sultana, S., Matin, A., Fakir, M. H. J., & Islam, M. R. (2017). Carnitine Palmitoyl Tranferase Type 1 Deficiency in Fatty acid oxidation disorder: A Case report. Journal of Shaheed Suhrawardy Medical College, 6(1), 38–40. https://doi.org/10.3329/jssmc.v6i1.31491

Issue

Vol. 6 No. 1 (2014)

Section

Case Reports

License

Copyright ©2015 Shaheed Suhrawardy Medical College Teachers’ Association.