Abstract
Liver dysfunction usually accompanies metabolic decompensation in fatty acid oxidation disorders, including carnitine palmitoyltransferase (CPT) Ia deficiency. Typically, the liver is enlarged with raised plasma transaminase activities and steatosis on histological examination. In contrast, cholestatic jaundice is rare, having only been reported in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. We report a 3-year-old boy with CPT Ia deficiency who developed hepatomegaly and cholestatic jaundice following a viral illness. No cause for the jaundice could be found, apart from the fatty acid oxidation disorder. Liver histology showed diffuse, predominately macrovesicular steatosis, hepatocellular and canalicular cholestasis but no bile duct paucity or evidence of large duct obstruction. The liver dysfunction resolved in 4–7 weeks.
Competing interests: None declared
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Abbreviations
- CMV:
-
Cytomegalovirus
- CPT:
-
Carnitine palmitoyltransferase
- EBV:
-
Epstein-Barr virus
- LCHAD:
-
Long-chain 3-hydroxyacyl-CoA dehydrogenase
References
Bougneres PF, Saudubray JM, Marsac C, Bernard O, Odievre M, Girard J (1981) Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. J Pediatr 98:742–746
Greenberg CR, Dilling LA, Thompson GR et al (2009) The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian aboriginal populations. Mol Genet Metab 96:201–207
Ibdah JA, Dasouki MJ, Strauss AW (1999) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. J Inherit Metab Dis 22:811–814
Olpin SE, Allen J, Bonham JR et al (2001) Features of carnitine palmitoyltransferase type I deficiency. J Inherit Metab Dis 24:35–42
Pizarro M, Balasubramaniyan N, Solis N et al (2004) Bile secretory function in the obese Zucker rat: evidence of cholestasis and altered canalicular transport function. Gut 53:1837–1843
Saudubray JM, Martin D, de Lonlay P et al (1999) Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis 22:488–502
Tyni T, Ekholm E, Pihko H (1998) Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Obstet Gynecol 178:603–608
Tyni T, Palotie A, Viinikka L et al (1997) Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. J Pediatr 130:67–76
Yingying C (2011) Abnormal liver chemistry in patients with influenza A H1N1. Liver Int 31:902
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Additional information
Communicated by: Rodney Pollitt
Rights and permissions
Copyright information
© 2012 SSIEM and Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Morris, A.A.M., Olpin, S.E., Bennett, M.J., Santani, A., Stahlschmidt, J., McClean, P. (2012). Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency. In: Brown, G., Morava, E., Peters, V., Gibson, K., Zschocke, J. (eds) JIMD Reports - Case and Research Reports, 2012/4. JIMD Reports, vol 7. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_135
Download citation
DOI: https://doi.org/10.1007/8904_2012_135
Received:
Revised:
Accepted:
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-32441-3
Online ISBN: 978-3-642-32442-0
eBook Packages: MedicineMedicine (R0)