Laboratory Genetics in Minnesota

2003 Publications of the Biochemical Genetics Laboratory

In 2003, members of the BGL have co-authored 23 peer-reviewed publications, 2 peer-reviewed publications, and presented more than 28 abstracts at national and international conferences. These references illustrate the variety, clinical breadth, and continued growth of the areas we have been investigating.

Original Articles

Dispenzieri A, Kyle RA, Gertz MA, Therneau TM, Miller WL, Chandrasekaran K, McConnell JP, Burritt MF, Jaffe AS. Survival in patients with primary systemic amyloidosis and raised serum cardiac troponins. Lancet 2003 May 24; 361(9371):1787-9.

Fu X, Rinaldo P, Hahn SH, Kodama H, Packman S. Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies, and copper deficiency phenotypes. J Inherit Metab Dis 2003; 26:55-66.

Gillingham M, Connor WE, Matern D, Rinaldo P, Burlingame T, Meeuws K, Harding C. Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Mol Genet Metab 2003; 79:114-123.

Grafakou O, Hol FA, Schwab KO, Siers MH, ter Laak H, Trijbels F, Ensenauer R, Boelen C, Smeitink J. Exercise intolerance, muscle pain and lactic acidemia associated with a G7497A mutation in the tRNA Ser (UCN) gene. J Inherit Metab Dis (2003) 26: 593-600.

Jalal SM, Harwood AR, Sekhon GS, Lorentz CP, Ketterling RP, Babovic-Vuksanovic D, Meyer RG, Ensenauer R, Anderson MH, Michels VV. Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients. Genet Med (2003) 5: 28-34.

Kizer JR, Muttrej MR, Matthai WH, McConnell J, Nardone H, Sonel AF, Keane MG, Wilensky RL. Role of cardiac troponin T in the long-term risk stratification of patients undergoing percutaneous coronary intervention. Eur Heart J 2003 Jul; 24(14):1314-22.

Kullo IJ, McConnell JP, Bailey PR, Kardia SL, Bielak LF, Peyser PA, Sheedy PF, Boerwinkle E, Turner ST. Relation of C-reactive protein and fibrinogen to coronary artery calcium in subjects with systemic hypertension. Am J Cardiol 2003 Jul 1; 92(1):56-8.

Magera MJ, Thompson AL, Matern D, Rinaldo P. A liquid chromatography-tandem mass spectrometry method for the determination of vanillylmandelic acid in urine. Clin Chem 2003; 49: 825-6

Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Lussky RC, Madsen PP, Andresen BS, Vockley J. Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics 2003; 112:74-78.

Nagan N, Kruckeberg KE, Tauscher AL, Snow-Bailey K, Rinaldo P, Matern D. The frequency of short-chain acyl-CoA dehydrogenase (SCAD) gene variants in the US American population and correlation with the C4 acylcarnitine concentration in newborn blood spots. Mol Gen Metab 2003; 78: 239-246.

Nga Ly TB, Peters V, Gibson KM, Liesert M, Buckel W, Wilcken B, Carpenter K, Ensenauer R, Hoffmann GF, Mack M, Zschocke J. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat (2003) 21: 401-407.

Ofman R, Ruiter JPN, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RA. Purification and cloning of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase and the molecular basis of 2-methyl-3-hydroxybutyric aciduria. Am J Hum Gen (2003) 72: 1300-1307.

Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness, J Med Genet. 2003;40(4):242-248.

Park WD, O'Brien JF, Lundquist PA, Kraft DL, Vockley CW, Karnes PS, Patterson MC, Snow K. Identification of 58 novel mutations in Niemann-Pick disease Type C: Correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat 2003 Oct; 22(4):313-325.

Schwab KO, Ensenauer R, Matern D, Uyanik G, Schnieders B, Wanders R, Lehnert W. Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the b -subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid b -oxidation with fatal outcome. Eur J Pediatr (2003) 162: 90-95.

Stadheim LM, O'Brien JF, Lindor KD, Gores GJ, McGill DB. Value of determining carbohydrate-deficient transferrin-isoforms in the diagnosis of alcoholic liver disease. Mayo Clin Proc 2003 Jun; 78(6):703-7.

Ukleja A, Scolapio JS, McConnell JP, Dickson RC, Nguyen JH, O'Brien PC. Serum and hepatic vitamin E assessment in cirrhotics before transplantation. Jpen: Journal of Parenteral & Enteral Nutrition 2003 Jan-Feb; 27(1):71-3.

Woodruff BK, Britton JW, Tigaran S, Cascino GD, Burritt M, McConnell JP, Ravkilde J, Molgaard H, Andreasen F, Dam M, Jaffe AS. Cardiac troponin levels following monitored epileptic seizures. Neurology 2003 May 27; 60(10):1690-2.

Young SP, Matern D, Gregersen N, Stevens RD, Bali D, Liu HM, Koeberl DD, Millington DS. A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. Clin Chim Acta 2003; 337:103-113

Reviews and Chapters

Ensenauer R, Reinke SS, Ackermann MJ, Tester DJ, Whiteman DAH, Tefferi A. Primer on Medical Genomics. Part VIII: Essentials of Medical Genetics for the Practicing Physician. Mayo Clin Proc (2003) 78: 846-857.

Matern D, Rinaldo P. Newborn screening – Opportunities and challenges of tandem mass spectrometry. Clinical Laboratory News (CLN) 2003; 29:12-15.

Matern D, Rinaldo P. Improving newborn screening for CAH using tandem mass sepctrometry. CARES Foundation 2003; 2:14-15.

Matern D, Rinaldo P. Medium-chain acyl-coenzyme A dehydrogenase deficiency. In: GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics [database online: Initial posting: April 20, 2000; last update January 27, 2003]. Copyright, University of Washington, Seattle. Available at http://www.geneclinics.org.

Non-Peer Reviewed Articles

Matern D, Rinaldo P. Newborn Screening: Tandem Mass Spectrometry. In: De Vivo D: Mitochondrial and Metabolic Disorders – A Primary Care Physician's Guide. 2nd edition. 2003; pp. 24-27

Studinski , AL . The Current Status of Prenatal Diagnosis for Organic Acidemias. Organic Acidemia Association Newsletter. 2003;XI(3)8-10.