Browse > Article
http://dx.doi.org/10.3345/kjp.2012.55.2.58

Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby  

Cho, Hyun-Seok (Department of Pediatrics, Kangwon National University Hospital)
Choo, Young-Kwang (Department of Pediatrics, Kangwon National University Hospital)
Lee, Hong-Jin (Department of Pediatrics, Hallym University College of Medicine)
Lee, Hyeon-Soo (Department of Pediatrics, Kangwon National University Hospital)
Publication Information
Clinical and Experimental Pediatrics / v.55, no.2, 2012 , pp. 58-62 More about this Journal
Abstract
Carnitine (${\beta}$-hydroxy-${\gamma}$-trimethylaminobutyric acid) is involved in the transport of long-chain fatty acids into the mitochondrial matrix and the removal of potentially toxic acylcarnitine esters. Transient carnitine transport defect is a rare condition in newborns reported in 1/90,000 live births. In this paper, we describe a case of transient carnitine transport defect found in a premature baby who had prolonged cholestatic jaundice and poor weight gain, and who responded dramatically to oral carnitine supplementation.
Keywords
Transient carnitine transport defect; Cholestatic jaundice; Poor weight gain; Prematurity;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Bremer J. The role of carnitine in intracellular metabolism. J Clin Chem Clin Biochem 1990;28:297-301.
2 Chalmers RA, Stanley CA, English N, Wigglesworth JS. Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. J Pediatr 1997;131:220-5.   DOI   ScienceOn
3 Lee NC, Tang NL, Chien YH, Chen CA, Lin SJ, Chiu PC, et al. Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. Mol Genet Metab 2010;100:46-50.   DOI   ScienceOn
4 Cano A, Ovaert C, Vianey-Saban C, Chabrol B. Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia. Pediatr Cardiol 2008;29:163-5.   DOI   ScienceOn
5 Niu DM, Chien YH, Chiang CC, Ho HC, Hwu WL, Kao SM, et al. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis 2010;33(Suppl 2):S295-305.   DOI
6 Koizumi A, Nozaki J, Ohura T, Kayo T, Wada Y, Nezu J, et al. Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. Hum Mol Genet 1999;8:2247-54.   DOI   ScienceOn
7 Wilcken B, Wiley V, Sim KG, Carpenter K. Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry. J Pediatr 2001;138:581-4.   DOI   ScienceOn
8 Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 2003;111(6 Pt 1):1399-406.   DOI
9 Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, et al. Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab 2007;90:441-5.   DOI   ScienceOn
10 Matsuo M, Saiki K, Momota T, Ishida A, Kanazawa K, Murakami R, et al. Transient carnitine-responsive medium-chain dicarboxylic aciduria in an infant with cholestasis, hypoglycemia and cardiac failure. Acta Paediatr Jpn 1989;31:211-5.   DOI
11 Amat di San Filippo C, Taylor MR, Mestroni L, Botto LD, Longo N. Cardiomyopathy and carnitine deficiency. Mol Genet Metab 2008;94: 162-6.   DOI   ScienceOn
12 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:77-85.   DOI   ScienceOn
13 Stanley CA, DeLeeuw S, Coates PM, Vianey-Liaud C, Divry P, Bonnefont JP, et al. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol 1991;30:709-16.   DOI   ScienceOn
14 Stanley CA, Bennett MJ, Mayatepek E. Disorders of fatty acid oxidation and related metabolic pathways. In: Fernandes J, Saudubray JM, van Den Berghe G, Walter JH, editors. Inborn metabolic diseases: diagnosis and treatment. 4th ed. Heidelberg: Springer, 2006:177-88.
15 de Vries Y, Arvidson DN, Waterham HR, Cregg JM, Woldegiorgis G. Functional characterization of mitochondrial carnitine palmitoyltransferases I and II expressed in the yeast Pichia pastoris. Biochemistry 1997; 36:5285-92.   DOI   ScienceOn
16 Hwu WL, Chiang SC, Chang MH, Wang TR. Carnitine transport defect presenting with hyperammonemia: report of one case. Acta Paediatr Taiwan 2000;41:36-8.
17 Ogier de BH, Superti-Furga A. Disorders of mitochondrial fatty acid oxidation and ketone body metabolism. In: Blau N, Hoffman GF, Leonard JV, Clarke JT, editors. Physician's guide to the treatment and follow-up of metabolic disease. Berlin: Springer, 2006:147-60.
18 Evangeliou A, Vlassopoulos D. Carnitine metabolism and deficit-- when supplementation is necessary? Curr Pharm Biotechnol 2003;4:211-9.   DOI   ScienceOn
19 Chiong MA, Sim KG, Carpenter K, Rhead W, Ho G, Olsen RK, et al. Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. Mol Genet Metab 2007; 92:109-14.   DOI   ScienceOn