Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant

Molecular Genetics and Metabolism

Volumn 104, Issue 3, 2011, Pages 261-264

  Gillingham, Melanie B ^a,b   Hirschfeld, Matthew ^c   Lowe, Sarah ^b   Matern, Dietrich ^d   Shoemaker, James ^e   Lambert, William E ^b   Koeller, David M ^b  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c SOUTHCENTRAL FOUNDATION   (United States)

^d Mayo Clinic   (United States)

^e SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Carnitine palmitoyltransferase 1A; Fasting; Fatty acid oxidation; Hypoglycemia; Hypoketotoic; Ketones

Indexed keywords

ACYLCARNITINE; CARNITINE PALMITOYLTRANSFERASE 1A; CARNITINE PALMITOYLTRANSFERASE I; FATTY ACID; KETONE; UNCLASSIFIED DRUG;

ARTICLE; CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY; CHILD; CLINICAL ARTICLE; DIET RESTRICTION; ENZYME DEFICIENCY; FATTY ACID BLOOD LEVEL; FEMALE; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HYPOGLYCEMIA; HYPOKETOTIC HYPOGLYCEMIA; IMPAIRED FASTING TOLERANCE; INBORN ERROR OF METABOLISM; KETOGENESIS; MALE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; UNITED STATES;

ALASKA; AMERICAN NATIVE CONTINENTAL ANCESTRY GROUP; BODY MASS INDEX; CARNITINE; CARNITINE O-PALMITOYLTRANSFERASE; CHILD, PRESCHOOL; FATTY ACIDS, NONESTERIFIED; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HOMOZYGOTE; HUMANS; HYPOGLYCEMIA; KETONES; LIPID METABOLISM, INBORN ERRORS; POLYMORPHISM, SINGLE NUCLEOTIDE; TANDEM MASS SPECTROMETRY;

EID: 82455187927     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.06.017     Document Type: Article

References (19)

1. Brown N.F., Mullur R.S., Subramanian I., Esser V., Bennett M.J., Saudubray J.M., Feigenbaum A.S., Kobari J.A., Macleod P.M., McGarry J.D., Cohen J.C. Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme. J. Lipid Res. 2001, 42:1134-1142.
2. Gessner B.D., Gillingham M.B., Johnson M.A., Richards C.S., Lambert W.E., Sesser D., Rien L.C., Hermerath C.A., Skeels M.R., Birch S., Harding C.O., Wood T., Koeller D.M. Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants. J. Pediatr. 2011, 158:124-129.
3. Greenberg C.R., Dilling L.A., Thompson G.R., Seargeant L.E., Haworth J.C., Phillips S., Chan A., Vallance H.D., Waters P.J., Sinclair G., Lillquist Y., Wanders R.J., Olpin S.E. The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations. Mol. Genet. Metab. 2009, 96:201-207.
4. Rajakumar C., Ban M.R., Cao H., Young T.K., Bjerregaard P., Hegele R.A. Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I. J. Lipid Res. 2009, 50:1223-1228.
5. Bennett M.J., Narayan S. Carnitine Palmitoyltransferase 1A Deficiency. Genereviews 2010, NBK1527 PMID: 20301700.
6. Adams M.M. The descriptive epidemiology of sudden infant deaths among natives and whites in Alaska. Am. J. Epidemiol. 1985, 122:637-643.
7. Fleshman J.K., Peterson D.R. The sudden infant death syndrome among Alaskan natives. Am. J. Epidemiol. 1977, 105:555-558.
8. Gessner B.D., Gillingham M.B., Birch S., Wood T., Koeller D.M. Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant. Pediatrics 2010, 126:945-951.
9. Shoemaker J.D., Elliott W.H. Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease. J. Chromatogr. 1991, 562:125-138.
10. Smith E.H., Matern D. Acylcarnitine analysis by tandem mass spectrometry. Curr. Protoc. Hum. Genet. 2010, 17(Unit 17 18):11-20.
11. Bonnefont J.P., Specola N.B., Vassault A., Lombes A., Ogier H., de Klerk J.B., Munnich A., Coude M., Paturneau-Jouas M., Saudubray J.M. The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states. Eur. J. Pediatr. 1990, 150:80-85.
12. Costa C.C., de Almeida I.T., Jakobs C., Poll-The B.T., Duran M. Dynamic changes of plasma acylcarnitine levels induced by fasting and sunflower oil challenge test in children. Pediatr. Res. 1999, 46:440-444.
13. Fingerhut R., Roschinger W., Muntau A.C., Dame T., Kreischer J., Arnecke R., Superti-Furga A., Troxler H., Liebl B., Olgemoller B., Roscher A.A. Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. Clin. Chem. 2001, 47:1763-1768.
14. Frohlich J., Seccombe D.W., Hahn P., Dodek P., Hynie I. Effect of fasting on free and esterified carnitine levels in human serum and urine: correlation with serum levels of free fatty acids and beta-hydroxybutyrate. Metabolism 1978, 27:555-561.
15. B.T. van Maldegem, M. Duran, R.J. Wanders, H.R. Waterham, T.J. de Koning, E. Rubio, F.A. Wijburg, Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency J Pediatr 156 121-127.
16. Wilcken B., Hammond J., Silink M. Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. Arch. Dis. Child. 1994, 70:410-412.
17. Horvath G.A., Davidson A.G., Stockler-Ipsiroglu S.G., Lillquist Y.P., Waters P.J., Olpin S., Andresen B.S., Palaty J., Nelson J., Vallance H. Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada. Can. J. Public Health 2008, 99:276-280.
18. G.L. Arnold, C.A. Saavedra-Matiz, P.A. Galvin-Parton, R. Erbe, E. Devincentis, D. Kronn, S. Mofidi, M. Wasserstein, J.E. Pellegrino, P.A. Levy, D.J. Adams, M. Nichols, M. Caggana, Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State Mol Genet Metab 99 263-268.
19. Marsden D. Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience. Southeast Asian J. Trop. Med. Public Health 2003, 34(Suppl. 3):111-114.