Newborn screening: After the thrill is gone

Molecular Genetics and Metabolism

Volumn 92, Issue 1-2, 2007, Pages 6-12

  Vockley, Jerry ^a,b  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

Acyl CoA dehydrogenases; Expanded newborn screening; Isovaleric academia; Society for Inherited Metabolic Disorders

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ISOVALERIC ACID; ISOVALERYL COENZYME A DEHYDROGENASE;

ACIDEMIA; ARTICLE; DIET THERAPY; ENZYME DEFICIENCY; GENETICS; GENOTYPE; HUMAN; INBORN ERROR OF METABOLISM; LABORATORY TEST; LIFESTYLE MODIFICATION; MEDICAL RESEARCH; MEDICAL SOCIETY; MOLECULAR BIOLOGY; MOLECULAR CLONING; NEWBORN SCREENING; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY;

EID: 34548438133     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.05.012     Document Type: Note

References (42)

1. Binzak B., Wevers R.A., Moolenaar S.H., Poggi-Bach J., Engelke U.F.H., Vockley J.G., and Vockley J. Dimethylglycinuria, a new inborn error of metabolism: NMR spectroscopic and molecular genetic analysis. Am. J. Hum. Genet. 62 (1998) A14
2. Gibson K.M., Burlingame T.G., Hogema B., Jakobs C., Schutgens R.B.H., Millington D., Roe C.R., Roe D.S., Sweetman L., Steiner R.D., Linck L., Pohowalla P., Sacks M., Kiss D., Rinaldo P., and Vockley J. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of l-isoleucine metabolism. Pediatr. Res. 47 (2000) 830-833
3. Nguyen T.V., Andresen B.S., Corydon T.J., Ghisla S., Abd-El Razik N., Mohsen A.W., Cederbaum S.D., Roe D.S., Roe C.R., Lench N.J., and Vockley J. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. Mol. Genet. Metab. 77 (2002) 68-79
4. He M., Kratz L., Ferris L., Kelley R.I., Hoover J., Gibson K.M., and Vockley J. A possible new disorder of cholesterol biosynthesis involving the 4-alpha-methylsterol-4-demethylase complex. Mol. Gen. Genet. 90 (2007) 241
5. He M., Rutledge S., Kelly D., Palmer C., Murdoch G., Majumder N., Nicholls R., Pei Z., Watkins P.A., and Vockley J. A new genetic disorder in mitochondrial fatty acid beta-oxidation, ACAD9 deficiency. Am. J. Hum. Genet. 81 (2007) 87-103
6. Tanaka K., and Indo Y. Evolution of the Acyl-CoA dehydrogenase/oxidase superfamily. Prog. Clin. Biol. Res.-New Dev. Fatty Acid Oxidation 375 (1992) 95-110
7. Tanaka K., Budd M.A., Efron M.L., and Isselbacher K.J. Isovaleric acidemia: a new genetic defect of leucine metabolism. Proc. Natl. Acad. Sci. USA 56 (1966) 236-242
8. Tanaka K. Isovaleric acidemia: personal history, clinical survey and study of the molecular basis. Prog. Clin. Biol. Res. 321 (1990) 273-290
9. Parimoo B., and Tanaka K. Structural organization of the human Isovaleryl-CoA dehydrogenase gene. Genomics 15 (1993) 582-590
10. Ensenauer R., Vockley J., Willard J.M., Huey J.C., Sass J.O., Edland S.D., Burton B.K., Berry S.A., Santer R., Grunert S., Koch H.G., Marquardt I., Rinaldo P., Hahn S., and Matern D. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am. J. Hum. Genet. 75 (2004) 1136-1142
11. Mohsen A.W., Anderson B.D., Volchenboum S.L., Battaile K.P., Tiffany K., Roberts D., Kim J.J., and Vockley J. Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. Biochemistry 37 (1998) 10325-10335
12. Vockley J., Nagao M., Parimoo B., and Tanaka K. The variant human isovaleryl-CoA dehydrogenase gene responsible for type-II isovaleric acidemia determines an RNA splicing error, leading to the deletion of the entire 2nd coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial import receptors. J. Biol. Chem. 267 (1992) 2494-2501
13. Vockley J., Parimoo B., Nagao M., and Tanaka K. Identification of the molecular defects responsible for the various genotypes of isovaleric acidemia. Prog. Clin. Biol. Res. 375 (1992) 533-540
14. Vockley J., Parimoo B., and Tanaka K. Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. Am. J. Hum. Genet. 40 (1991) 147-157
15. Vockley J., and Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am. J. Med. Genet. C Semin. Med. Genet. 142 (2006) 95-103
16. Nasser I., Mohsen A.W., Jelesarov I., Vockley J., Macheroux P., and Ghisla S. Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stability. Biochim. Biophys. Acta 1690 (2004) 22-32
17. Vockley J., Mohsen A.W., Binzak B., Willard J., and Fauq A. Mammalian branched-chain acyl-CoA dehydrogenases: molecular cloning and characterization of recombinant enzymes. Methods Enzymol. 324 (2000) 241-258
18. Ikeda Y., and Tanaka K. Purification and characterization of 2-methyl-branched chain acyl Coenzyme A dehydrogenase, an enzyme involved in isoleucine and valine metabolism, from rat liver mitochondria. J. Biol. Chem. 258 (1983) 9477-9487
19. Rozen R., Vockley J., Zhou L., Milos R., Willard J., Fu K., Vicanek C., Low-Nang L., Torban E., and Fournier B. Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family. Genomics 24 (1994) 280-287
20. Roe C.R., Cederbaum S.D., Roe D.S., Mardach R., Galindo A., and Sweetman L. Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. Mol. Genet. Metab. 65 (1998) 264-271
21. Matern D., He M., Berry S.A., Rinaldo P., Whitley C.B., Madsen P.P., van Calcar S.C., Lussky R.C., Andresen B.S., Wolff J.A., and Vockley J. Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics 112 (2003) 74-78
22. Oglesbee D., He M., Majumder N., Vockley J., Ahamad A., Angle B., Burton B., Charrow J., Ensenauer R., CH F., Keppen L., Marsden D., Tortorelli S., Houn Hahn S., and Matern D. Development of a newborn screening follow up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet. Med. 9 (2007) 108-116
23. van Calcar S.C., Gleason L.A., Lindh H., Hoffman G., Rhead W., Vockley G., Wolff J.A., and Durkin M.S. 2-Methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen. Wisconsin Med. J. 106 (2007) 12-15
24. Amendt B., Green C., Sweetman L., Cloherty H., Shih V., Moon A., Teel L., and Rhead W. Short chain acyl-CoA dehydrogenase deficiency: clinical and biochemical studies in two patients. J. Clin. Invest. 79 (1987) 1303-1309
25. Corydon M.J., Gregersen N., Lehnert W., Ribes A., Rinaldo P., Kmoch S., Christensen E., Kristensen T.J., Andresen B.S., Bross P., Winter V., Martinez G., Neve S., Jensen T.G., Bolund L., and Kolvraa S. Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. Pediatr. Res. 39 (1996) 1059-1066
26. Corydon M., Vockley J., Rinaldo R., Rhead W., Kjeldse M., Winte V., Riggs C., Babovic-Vuksanovic D., Smeitink J., de Jong J., Levy H., Sewell A., Roe R., Matern D., Dasouki M., and Gregersen G. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr. Res. 49 (2001) 18-23
27. Nguyen T., Riggs C., Babovic-Vuksanovic D., Kim Y.S., Carpenter J.F., Burghardt T.P., Gregersen N., and Vockley J. Purification and Characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme. Biochemistry 41 (2002) 11126-11133
28. Pedersen C.B., Bross P., Winter V.S., Corydon T.J., Bolund L., Bartlett K., Vockley J., and Gregersen N. Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. J. Biol. Chem. 278 (2003) 47449-47458
29. Saenger A.K., Nguyen T.V., Vockley J., and Stankovich M.T. Thermodynamic regulation of human short-chain acyl-CoA dehydrogenase by substrate and product binding. Biochemistry 44 (2005) 16043-16053
30. Saenger A.K., Nguyen T.V., Vockley J., and Stankovich M.T. Biochemical and electrochemical characterization of two variant human short-chain acyl-CoA dehydrogenases. Biochemistry 44 (2005) 16035-16042
31. Tein I., Haslam R.H.A., Rhead W.J., Bennett M.J., Becker L.E., and Vockley J. Short-chain acyl-CoA dehydrogenase deficiency-a cause of ophthalmoplegia and multicore myopathy. Neurology 52 (1999) 366-372
32. van Maldegem B.T., Duran M., Wanders R.J., Niezen-Koning K.E., Hogeveen M., Ijlst L., Waterham H.R., and Wijburg F.A. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA 296 (2006) 943-952
33. Gregersen N., Winter V., Curtis D., Deufel T., Mack M., Hendrickx J., Willems P.J., Ponzone A., Parella T., Ponzone R., Ding J.H., Zhang W., Chen Y.T., Kahler S., Roe C.R., Kolvraa S., Schneiderman K., Andresen B.S., Bross P., and Bolund L. Medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency-the prevalent mutation g985 (K304E) is subject to a strong founder effect from Northwestern Europe. Hum. Hered. 43 (1993) 342-350
34. Tanaka K., Gregersen N., Ribes A., Kim J., Kolvraa S., Winter V., Eiberg H., Martinez G., Deufel T., Leifert B., Santer R., Francois B., Pronicka E., Laszlo A., Kmoch S., Kremensky I., Kalaydjicva L., Ozalp I., and Ito M. 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. 41 (1997) 201-209
35. Bross P., Andresen B.S., Winter V., Krautle F., Jensen T.G., Nandy A., Kolvraa S., Ghisla S., Bolund L., and Gregersen N. Co-Overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain Acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation. Biochim. Biophys. Acta 1182 (1993) 264-274
36. Kim J.J.P., Wang M., and Paschke R. Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate. Proc. Natl. Acad. Sci. USA 90 (1993) 7523-7527
37. Kim J.-J.P., Wang M., Paschke R., Djordjevic S., Bennett D.W., and Vockley J. In: Yagi K. (Ed). Flavins and Flavoproteins 1993 (1994), Walter deGruyter, New York 273-282
38. Kim J.-J., and Wu J. Structure of the medium chain acyl-CoA dehydrogenase from pig liver mitochondria at 3-A resolution. Proc. Natl. Acad. Sci. USA 84 (1988) 6677-6681
39. Kim J.-J., and Wang M. The three dimensional structure of acyl-CoA dehydrogenases. Prog. Clin. Biol. Res. 375 (1992) 111-126
40. Dipple K.M., and McCabe E.R.B. Phenotypes of patients with simple Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 66 (2000) 1729-1735
41. Sriram G., Martinez J.A., McCabe E.R., Liao J.C., and Dipple K.M. Single-gene disorders: what role could moonlighting enzymes play?. Am. J. Hum. Genet. 76 (2005) 911-924
42. Zerhouni E.A. Research funding. NIH in the post-doubling era: realities and strategies. Science 314 (2006) 1088-1090