The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: A genetic epidemiological study

European Journal of Human Genetics

Volumn 13, Issue 8, 2005, Pages 947-952

  Derks, Terry G J ^a   Duran, Marinus ^b   Waterham, Hans R ^b   Reijngoud, Dirk Jan ^a   ten Kate, Leo P ^c   Smit, G Peter A ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Fatty acid oxidation; MCAD deficiency; North south trend; Prevalence; Segregation analysis; The Netherlands

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ARTICLE; COHORT ANALYSIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME DEFICIENCY; FATTY ACID OXIDATION; GENETIC EPIDEMIOLOGY; HUMAN; MAJOR CLINICAL STUDY; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MITOCHONDRIAL RESPIRATION; NETHERLANDS; PREVALENCE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SEGREGATION ANALYSIS;

ACYL-COA DEHYDROGENASE; ALGORITHMS; COHORT STUDIES; EPIDEMIOLOGIC STUDIES; GENE FREQUENCY; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; NETHERLANDS; PREVALENCE; RETROSPECTIVE STUDIES;

EID: 23644436184     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201428     Document Type: Article

References (21)

1. Roe CR, Ding J: Mitochondrial fatty acid oxidation disorders; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic & Molecular Bases of Inherited Disease. McGraw-Hill Medical Publishing Division: New York. Vol 8. 2001, pp 2297-2326.
2. Touma EH, Charpentier C: Medium chain acyl-CoA dehydrogenase deficiency. Arch Dis Child 1992; 67: 142-145.
3. Iafolla AK, Thompson Jr RJ, Roe CR: Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr 1994; 124: 409-415.
4. Gregersen N, Blakemore AI, Winter V et al: Specific diagnosis of medium-chain Acyl-CoA dehydrogenase MCAD deficiency in dried blood spots by a polymerase chain reaction PCR assay detecting a point-mutation G985 in the MCAD gene. Clin Chim Acta 1991; 203: 23-34.
5. Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K: Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. Am J Hum Genet 1991; 49: 1280-1291.
6. Tanaka K, Yokota I, Coates PM et al: Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. Hum Mutat 1992; 1: 271-279.
7. Wang SS, Fernhoff PM, Hannon WH, Khoury MJ: Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review. Genet Med 1999; 1: 332-339.
8. Tanaka K, Gregersen N, Ribes A et al: A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration. Pediatr Res 1997; 41: 201-209.
9. De Vries HG, Niezen-Koning KE, Kliphuis JW et al: Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in the Netherlands. Hum Genet 1996; 98: 1-2.
10. Fromenty B, Mansouri A, Bonnefont JP et al: Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France. Hum Genet 1996; 7: 367-368.
11. Seddon HR, Green A, Gray RG, Leonard JV, Pollitt RJ: Regional variations in medium-chain acyl-CoA dehydrogenase deficiency. Lancet 1995; 345: 135-136.
12. Duran M, Hofkamp M, Rhead WJ, Saudubray JM, Wadman SK: Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatrics 1986; 78: 1052-1057.
13. Wilson JM, Jungner YG: Principios y metodos del examen colectivo para identificar enfermedades. Bol Oficina Sanit Panam 1968; 65: 281-393.
14. Collee JM, De Vries H, Scheffer H, Halley D, Ten Kate L: Relative frequencies of cystic fibrosis mutations in The Netherlands, as an illustration of significant regional variation in a small country. Hum Genet 1998; 102: 587-590.
15. Li CC, Mantel N: A simple method of estimating the segregation ratio under complete ascertainment. Am J Hum Genet 1968; 20: 61-81.
16. Davie AM: The 'singles' method for segregation analysis under incomplete ascertainment. Ann Hum Genet 1979; 42: 507-512.
17. Lange K: Mathematical and Statistical Methods for Genetic Analysis. New York: Springer, 1997.
18. Efron BTR: An Introduction to Bootstrap. New York: Chapman and Hall, 1993.
19. Casillas ER: Accumulation of carnitine by bovine spermatozoa during maturation in the epididymis. J Biol Chem 1973; 248: 8227-8232.
20. Toshimori K, Kuwajima M, Yoshinaga K, Wakayama T, Shima K: Dysfunctions of the epididymis as a result of primary carnitine deficiency in juvenile visceral steatosis mice. FEBS Lett 1999; 446: 323-326.
21. Xuan W, Lamhonwah AM, Librach C, Jarvi K, Tein I: Characterization of organic cation/carnitine transporter family in human sperm. Biochem Biophys Res Commun 2003; 306: 121-128.