Abstract
Systemic primary carnitine deficiency (CDSP) is a rare autosomal recessive disorder caused by a defect in plasma membrane uptake of carnitine due to SLC22A5 gene mutations. A nine-mo-old boy presented with hypertrophic cardiomyopathy, massive hepatomegaly and jaundice. Metabolic testing revealed very low free carnitine levels. Genetic analysis using Sanger sequencing method revealed compound heterozygous mutations in SLC22A5 gene, c. 1354 G > A (p. Glu452Lys, previously reported) and c.231_234del (novel frame-shift). Oral carnitine supplementation resulted in improved clinical outcome with ejection fraction to 75 % and normalization of liver size and enzymes after 3 mo.
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References
Li FY, El-Hattab AW, Bawle EV, et al. Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Hum Mutat. 2010;31:E1632–51.
Chapoy PR, Angelini C, Brown WJ, Stiff JE, Shug AL, Cederbaum SD. Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye’s syndrome. N Engl J Med. 1980;303:1389–94.
Koizumi A, Nozaki J, Ohura T, 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.
Lund AM, Joensen F, Hougaard DM, et al. Carnitine transporter and holocarboxylase synthetase deficiencies in the Faroe Islands. J Inherit Metab Dis. 2007;30:341–9.
Rasmussen J, Nielsen OW, Janzen N, et al. Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands. J Inherit Metab Dis. 2014;37:215–22.
Flanagan JL, Simmons PA, Vehige J, Willcox MD, Garrett Q. Role of carnitine in disease. Nutr Metab (Lond). 2010;7:30.
Magoulas PL, El-Hattab AW. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2012;7:68.
Mahale RR, Mehta A, Timmappaya A, Srinivasa R. Primary carnitine deficiency as a cause of metabolic leukoencephalopathy: report of one case. Neurol India. 2016;64:166–8.
Fu L, Huang M, Chen S. Primary carnitine deficiency and cardiomyopathy. Korean Circ J. 2013;43:785–92.
Kilic M, Ozgül RK, Coskun T, et al. Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency. JIMD Rep. 2012;3:17–23.
Lee NC, Tang NL, Chien YH, et al. Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. Mol Genet Metab. 2010;100:46–50.
Contributions
SD: Worked up the case, reviewed the literature, followed up the case and drafted the case report; SB-M: Worked up the case and followed up, facilitated molecular diagnosis, and helped in drafting the manuscript; VM: Worked up the case, reviewed the literature and followed up the case; YS: Performed Tandem Mass Spectrometry for diagnosis; KH and RS: Performed molecular analysis; ICV: Reviewed the manuscript for critical content. SB-M will act as guarantor for the paper.
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Deswal, S., Bijarnia-Mahay, S., Manocha, V. et al. Primary Carnitine Deficiency – A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly. Indian J Pediatr 84, 83–85 (2017). https://doi.org/10.1007/s12098-016-2227-7
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DOI: https://doi.org/10.1007/s12098-016-2227-7