Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska native infants

Journal of Pediatrics

Volumn 158, Issue 1, 2011, Pages 124-129

  Gessner, Bradford D ^a,e   Gillingham, Melanie B ^b   Johnson, Monique A ^b   Richards, C Sue ^b   Lambert, William E ^b   Sesser, David ^d   Rien, Leanne C ^d   Hermerath, Cheryl A ^d   Skeels, Michael R ^d   Birch, Stephanie ^a   Harding, Cary O ^b   Wood, Thalia ^a   Koeller, David M ^b,c  

^a Alaska Division of Public Health   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d Oregon State Public Health Laboratory   (United States)

^e NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE 1A; CARNITINE PALMITOYLTRANSFERASE I; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; GENE FREQUENCY; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INDIGENOUS PEOPLE; INFANT; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; RACE DIFFERENCE; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; UNITED STATES;

EID: 78650034464     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2010.07.031     Document Type: Article

References (23)

1. M. Natowicz Newborn screening: setting evidence-based policy for protection N Engl J Med 353 2005 867 870
2. M.S. Watson, M.A. Lloyd-Puryear, M.Y. Mann, P. Rinaldo, and R.R. Howell Newborn screening: toward a uniform screening panel and system Genet Med 8 Suppl 1 2006 1S 252S
3. Bennett MJ, Narayan S. Carnitine palmitoyltransferase 1A deficiency. Gene Reviews at GeneTests: Medical Genetics Information Resource. Available from: http://www.genetests.org. Accessed August 26, 2010.
4. M. Brivet, A. Boutron, A. Slama, C. Costa, L. Thuillier, and F. Demaugre Defects in activation and transport of fatty acids J Inherit Metab Dis 22 1999 428 441
5. N.F. Brown, R.S. Mullur, I. Subramanian, V. Esser, M.J. Bennett, and J.M. Saudubray Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme J Lipid Res 42 2001 1134 1142
6. C.R. Greenberg, L.A. Dilling, G.R. Thompson, L.E. Seargeant, J.C. Haworth, and S. Phillips The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations Mol Genet Metab 96 2009 201 207
7. Northwest Regional Newborn Screening Program. Available from: http://www.oregon.gov/DHS/ph/nbs. Accessed August 26, 2010.
8. R. Fingerhut, W. Roschinger, A.C. Muntau, T. Dame, J. Kreischer, and R. Arnecke Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific Clin Chem 47 2001 1763 1768
9. C.A. Heid, J. Stevens, K.J. Livak, and P.M. Williams Real-time quantitative PCR Genome Res 6 1996 986 994
10. G. Sinclair, J. Ma, P. MacLeod, L. Arbour, and H. Vallance Retrospective genotyping of newborn screening cards for the P479L carnitine palmitoyltransferase (CPT1) variant: Correlation with acylcarnitine profiles and estimation of incidence in British Columbia Mol Genet Metab 90 2007 262
11. P.S. Shekhawat, D. Matern, and A.W. Strauss Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management Pediatr Res 57 2005 78R 86R
12. D.H. Chace, J.C. DiPerna, B.L. Mitchell, B. Sgroi, L.F. Hofman, and E.W. Naylor Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death Clin Chem 47 2001 1166 1182
13. M.M. Adams The descriptive epidemiology of sudden infant deaths among natives and whites in Alaska Am J Epidemiol 122 1985 637 643
14. M.H. Blabey, and B.D. Gessner Three maternal risk factors associated with elevated risk of postneonatal mortality among the Alaska native population Matern Child Health J 13 2009 222 230
15. Schoellhorn J WH, Perham-Hester K. Alaska Maternal and Child Health Data. Anchorage, AL: Alaska Department of Health and Social Services, Division of Public Health, Section of Maternal Child and Family Health, Maternal and Child Health Epidemiology Unit, 2003.
16. Alaska Bureau of Vital Statistics. 2005 AnnualReport. Available from: http://www.hss.state.ak.us/dph/bvs/PDFs/2005/annual-report/2005-Annual-Report. pdf. Accessed August 26, 2010.
17. S.D. Phinney Ketogenic diets and physical performance Nutr Metab (Lond) 1 2004 2
18. S. Obici, Z. Feng, A. Arduini, R. Conti, and L. Rossetti Inhibition of hypothalamic carnitinepalmitoyltransferase-1 decreases food intake and glucose production Nat Med 9 2003 756 761
19. A.K. Saha, and N.B. Ruderman Malonyl-CoA and AMP-activated protein kinase: an expanding partnership Mol Cell Biochem 253 2003 65 70
20. M.J. Wolfgang, T. Kurama, Y. Dai, A. Suwa, M. Asaumi, and S. Matsumoto The brain-specific carnitine palmitoyltransferase-1c regulates energy homeostasis Proc Natl Acad Sci USA 103 2006 7282 7287
21. K.J. Acton, N.R. Burrows, K. Moore, L. Querec, L.S. Geiss, and M.M. Engelgau Trends in diabetes prevalence among American Indian and Alaska native children, adolescents, and young adults Am J Public Health 92 2002 1485 1490
22. J.L. Naylor, C.D. Schraer, A.M. Mayer, A.P. Lanier, C.A. Treat, and N.J. Murphy Diabetes among Alaska Natives: a review Int J Circumpolar Health 62 2003 363 387
23. P.M. Risica, C. Schraer, S.O. Ebbesson, E.D. Nobmann, and B. Caballero Overweight and obesity among Alaskan Eskimos of the Bering Straits Region: the Alaska Siberia Project Int J Obes Relat Metab Disord 24 2000 939 944 (Pubitemid 30618111)