Download PDF
J Pediatr Genet
DOI: 10.1055/s-0042-1747933
Case-Based Review

Prolonged Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency

Nida Mirza 
1   Department of Paediatrics, Sri Aurobindo Institute of Medical Science, Indore, Madhya Pradesh, India
,
Ravi Bharadwaj
2   Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India
,
Smita Malhotra
2   Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India
,
Anupam Sibal
2   Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India
› Author Affiliations
› Further Information
    Permissions and Reprints

Abstract

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a type of fatty acid oxidation disorder in which long chain fatty acids cannot be transported into mitochondria for further processing and storage in our body. Typically, the patients present with lethargy, hypoglycemia, and raised serum transaminase levels before 2 years of age. Cholestatic jaundice as manifestation of this deficiency has been reported rarely; here, we report an adolescent male with CPT1A deficiency who developed prolonged cholestatic jaundice following a febrile illness.

Keywords

cholestatic jaundice - CPT1A - clinical


Publication History

Received: 02 June 2021

Accepted: 07 March 2022

Article published online:
02 May 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Bennett MJ, Santani AB. Carnitine palmitoyltransferase 1A deficiency. July 27, 2005 [updated March 17, 2016]. In: Adam MP, Ardinger HH, Pagon RA. et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019
    Google Scholar
  • 2 McGarry JD, Mills SE, Long CS, Foster DW. Observations on the affinity for carnitine, and malonyl-CoA sensitivity, of carnitine palmitoyltransferase I in animal and human tissues. Demonstration of the presence of malonyl-CoA in non-hepatic tissues of the rat. Biochem J 1983; 214 (01) 21-28
    CrossrefPubMedGoogle Scholar
  • 3 Olpin SE, Allen J, Bonham JR. et al. Features of carnitine palmitoyltransferase type I deficiency. J Inherit Metab Dis 2001; 24 (01) 35-42
    CrossrefPubMedGoogle Scholar
  • 4 Korman SH, Waterham HR, Gutman A, Jakobs C, Wanders RJA. Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency. Mol Genet Metab 2005; 86 (03) 337-343
    CrossrefPubMedGoogle Scholar
  • 5 Stanley CA, Palmieri F, Bennett MJ. Disorders of the mitochondrial carnitine shuttle. In: Valle D, Beaudet AL, Vogelstein B. et al., eds. The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). Ch. 101a. New York, NY: McGraw-Hill; 2014
    Google Scholar
  • 6 Brown NF, Mullur RS, Subramanian I. et al. Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme. J Lipid Res 2001; 42 (07) 1134-1142
    CrossrefPubMedGoogle Scholar
  • 7 Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet 2006; 142C (02) 77-85
    CrossrefPubMedGoogle Scholar
  • 8 Bougnères PF, Saudubray JM, Marsac C, Bernard O, Odièvre M, Girard J. Fasting hypoglycemia resulting from hepatic carnitine palmitoyltransferase deficiency. J Pediatr 1981; 98 (05) 742-746
    CrossrefPubMedGoogle Scholar
  • 9 Morris AA, Olpin SE, Bennett MJ, Santani A, Stahlschmidt J, McClean P. Cholestatic jaundice associated with carnitine palmitoyltransferase IA deficiency. JIMD Rep 2013; 7: 27-29
    CrossrefPubMedGoogle Scholar
  • 10 Krishnasamy J. Carnitine palmitoyltransferase-1 deficiency with hepatic encephalopathy in an adolescent. J Case Reports 2016; 1 (06) 475-478 Doi: http://dx.doi.org/10.17659/01.2016.0114
    CrossrefPubMedGoogle Scholar
  • 11 Pizarro M, Balasubramaniyan N, Solís N. et al. Bile secretory function in the obese Zucker rat: evidence of cholestasis and altered canalicular transport function. Gut 2004; 53 (12) 1837-1843
    CrossrefPubMedGoogle Scholar
  • 12 Wilcken B. Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis 2010; 33 (05) 501-506
    CrossrefPubMedGoogle Scholar