Thirty-year follow-up of carnitine supplementation in two siblings with hypertrophic cardiomyopathy caused by primary systemic carnitine deficiency

International Journal of Cardiology

Volumn 159, Issue 1, 2012, Pages

  Kishimoto, Shintaro ^a   Suda, Kenji ^a   Yoshimoto, Hironaga ^a   Teramachi, Yozo ^a   Nishino, Hiroshi ^a   Koteda, Yusuke ^a   Itoh, Shinichi ^a   Kudo, Yoshiyuki ^a   Iemura, Motofumi ^a   Matsuishi, Toyojiro ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Carnitine supplementation; Hypertrophic cardiomyopathy; Long term follow up; Primary systemic carnitine deficiency

Indexed keywords

CARNITINE;

CARNITINE DEFICIENCY; CHILD; ECHOCARDIOGRAPHY; HEART MUSCLE; HOMOZYGOSITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LETTER; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS;

EID: 84863776388     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2011.11.010     Document Type: Article

References (3)

1. 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(12): 2247-54. (Pubitemid 29525340)
2. Matsuishi T, Hirata K, Terasawa K, et al. Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. Neuropediatrics 1985;16(1):6-12. (Pubitemid 15167474)
3. Cederbaum SD, Koo-McCoy S, Tein I, et al. Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol Genet Metab 2002;77(3):195-201. (Pubitemid 35333823)