Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation

Clinical Genetics

Volumn 78, Issue 2, 2010, Pages 191-194

  Sarafoglou, K ^a   Tridgell, A H C ^b   Bentler, K ^a   Redlinger Grosse, K ^a   Berry, S A ^a   Schimmenti, L A ^a  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b SEATTLE CHILDREN S HOSPITAL   (United States)

Author keywords

Carnitine deficiency; Fatty acid oxidation; Heterozygote; Newborn screening

Indexed keywords

CARNITINE;

ADULT; ARTICLE; BRADYCARDIA; CARNITINE DEFICIENCY; CARNITINE SUPPLEMENTATION; ELECTROCARDIOGRAM; FAMILY; FEMALE; FOLLOW UP; HEART CONDUCTION; HUMAN; INFANT; MALE; NEWBORN SCREENING; PRIORITY JOURNAL; SINUS ARRHYTHMIA; SUPPLEMENTATION; CASE REPORT; DIET SUPPLEMENTATION; DRUG EFFECT; HEART MUSCLE CONDUCTION SYSTEM; HETEROZYGOTE; MIDDLE AGED; NEWBORN; PATHOPHYSIOLOGY; PREGNANCY;

CARNITINE; DIETARY SUPPLEMENTS; FEMALE; HEART CONDUCTION SYSTEM; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MIDDLE AGED; PREGNANCY;

EID: 83555162369     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01368.x     Document Type: Article

References (19)

1. Wu X, Prasad PD, Leibach FH et al. cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. Biochem Biophys Res Commun 1998: 246: 589-595.
2. Treem WR, Stanley CA, Finegold DN et al. Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N Engl J Med 1988: 319: 1331-1336.
3. Strauss AW, Andresen BS, Bennett MJ. Mitochondrial fatty acid oxidation defects. In: Sarafoglou K, Hoffmann GF, Roth KS, eds. Pediatric endocrinology and inborn errors of metabolism. New York, NY: McGraw Hill Inc, 2009: 51-70.
4. Koizumi K, 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: 2247-2254.
5. Vijay S, Patterson A, Olpin S et al. Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants. J Inherit Metab Dis 2006: 29: 627-630.
6. Scaglia F, Wang Y, Singh RH et al. Defective urinary carnitine transport in heterozygotes for primary deficiency. Genet Med 1998: 1: 34-39.
7. Garavaglia B, Uziel G, Dworzak F et al. Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation. Neurology 1991: 41: 1691-1693.
8. Vockley J, Rinaldo P, Bennett MJ et al. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab 2000: 71: 10-18.
9. Xiaofei E, Wada Y, Dakeishi M et al. Age-associated cardiomyopathy in heterozygous carrier mice of a pathological mutation of carnitine transporter gene, OCTN 2. J Gerontol 2002: 57: 270-278.
10. Takahashi R, Asai T, Murakami H et al. Pressure overloadinduced cardiomyopathy in heterozygous carrier mice of carnitine transporter gene mutation. Hypertension 2007: 50: 497-502.
11. Lahjouji K, Elimrani I, Wu J et al. A heterozygote phenotype is present in the jvs +/- mutant mouse livers. Mol Genet Metab 2002: 76: 76-80
12. Zhu Y, Jong MC, Frazer KA et al. Genomic interval engineering of mice identifies a novel modulator of triglyceride production. Proc Natl Acad Sci U S A 2000: 97: 1137-1142.
13. Bellinghieri G, Santoro D, Calvani et al. Carnitine and hemodialysis. Am J Kidney Dis 2003: 41: 116-122.
14. Argani H, Rahbaninoubar M, Ghorbanihagjo A et al. Effect of l-carnitine on the serum lipoproteins and HDL-C subclasses in hemodialysis patients. Nephron Clin Pract 2005: 101: 174-179.
15. Sayed-Ahmed MM, Khattab MM, Gad MZ et al. l-Carnitine prevents the progression of atherosclerotic lesions in hypercholesterolaemic rabbits. Pharmacol Res 2001: 44: 235-242.
16. Shekhawat PS, Srinivas SR, Matern D et al. Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice. Mol Genet Metab 2007: 92: 315-324.
17. Amat di San Filippo C, Taylor MR, Mestroni L et al. Cardiomyopathy and carnitine deficiency. Mol Genet Metab 2008: 94: 162-166.
18. Schuler AM, Gower BA, Matern D et al. Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation. Mol Genet Metab 2005: 85: 7-11.
19. El-Menyar AA, Galzerano D, Asaad N et al. Detection of myocardial dysfunction in the presence of normal ejection fraction. J Cardiovasc Med (Hagerstown) 2007: 8: 923-933.