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Mirhosseini, N., Saatchi, M., Taghiyar, S. (2020). Three Patients with CPT1A Deficiency: Literature Review and Case Series. Shahid Sadoughi University of Medical Sciences- Journal Management System, 3(1), 37-39. doi: 10.18502/wjpn.v3i1.5064
Naser Ali Mirhosseini; Mahdieh Saatchi; Sana Taghiyar. "Three Patients with CPT1A Deficiency: Literature Review and Case Series". Shahid Sadoughi University of Medical Sciences- Journal Management System, 3, 1, 2020, 37-39. doi: 10.18502/wjpn.v3i1.5064
Mirhosseini, N., Saatchi, M., Taghiyar, S. (2020). 'Three Patients with CPT1A Deficiency: Literature Review and Case Series', Shahid Sadoughi University of Medical Sciences- Journal Management System, 3(1), pp. 37-39. doi: 10.18502/wjpn.v3i1.5064
Mirhosseini, N., Saatchi, M., Taghiyar, S. Three Patients with CPT1A Deficiency: Literature Review and Case Series. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2020; 3(1): 37-39. doi: 10.18502/wjpn.v3i1.5064

Three Patients with CPT1A Deficiency: Literature Review and Case Series

World Journal of Peri and Neonatology
Article 6, Volume 3, Issue 1, March 2020, Pages 37-39    PDF (280.42 K)
Document Type: Case Report
DOI: 10.18502/wjpn.v3i1.5064
Authors
Naser Ali Mirhosseini* 1; Mahdieh Saatchi2; Sana Taghiyar3
1Department of Pediatrics, Shahid Sadoughi Hospital, Shahid sadoughi University of Medical Sciences, Yazd, Iran
2Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3Department 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
CPT1A; Deficiency; Hypoketotic Hypoglycemia; Reye Like Syndrome
References
  1. Choi JS, Yoo HW, Lee KJ, Ko JM, Moon JS, Ko JS. Novel mutations in the CPT1A gene identified in the patient presenting jaundice as the first manifestation of carnitine palmitoyltransferase 1A deficiency. Pediatr Gastroenterol Hepatol Nutr 2016; 19(1): 76-81.
  2. Kliegman RM, Geme J. Nelson textbook of pediatrics. 21st ed. Amsterdam, Netherlands: Elsevier; 2019.
  3. Bennett MJ, Santani AB. Carnitine Palmitoyltransferase 1A Deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al, editors. GeneReviews(R). Seattle, WA: University of Washington, Seattle University of Washington, Seattle; 1993.
  4. Kyriakie Sarafoglou GFH, Karl S. Roth. Pediatric endocrinology and inborn errors of metabolism. 2nd ed. New York, NY: McGraw Hill; 2017.
  5. Gobin S, Thuillier L, Jogl G, Faye A, Tong L, Chi M, et al. Functional and structural basis of carnitine palmitoyltransferase 1A deficiency. J Biol Chem 2003; 278(50): 50428-34.
  6. Fohner AE, Garrison NA, Austin MA, Burke W. Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data. Genet Med 2017; 19(8): 851-7.
  7. Cui D, Hu Y, Shen D, Tang G, Zhang M, Duan J, et al. [Clinical features and genetic analysis of a case with carnitine palmitoyltransferase 1A deficiency]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017; 34(2): 228-31. [In Chinese].
  8. Bellusci M, Quijada-Fraile P, Barrio-Carreras D, Martin-Hernandez E, Garcia-Silva M, Merinero B, et al. Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome. J Inherit Metab Dis 2017; 40(5): 751-2.
  9. Dowsett L, Lulis L, Ficicioglu C, Cuddapah S. Utility of Genetic testing for confirmation of abnormal newborn screening in disorders of long-chain fatty acids: a missed case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency. Int J Neonatal Screen 2017; 3(2): 10.
  10. Prip-Buus C, Thuillier L, Abadi N, Prasad C, Dilling L, Klasing J, et al. Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community. Mol Genet Metab 2001; 73(1): 46-54.
  11. Dykema D. Carnitine palmitoyltransferase-1A deficiency: a look at classic and arctic variants. Adv Neonatal Care 2012; 12(1): 23-7.
 

 

 

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