Metabolic Disorders

Research

Mayo Clinic is on the forefront of research for metabolic disorders, ranging from genetic research on genetic defects to development of new treatment options.

Select Publications

Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grunert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, 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. 2004 Dec;75(6):1136-42. Epub 2004 Oct 14. [Abstract]

Rinaldo P, Tortorelli S, Matern D. Recent developments and new applications of tandem mass spectrometry in newborn screening. Curr Opin Pediatr. 2004 Aug;16(4):427-33. Review. [Abstract]

Bulteau AL, O'Neill HA, Kennedy MC, Ikeda-Saito M, Isaya G, Szweda LI. Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity. Science. 2004 Jul 9;305(5681):242-5. [Abstract]

Isaya G, O'Neill HA, Gakh O, Park S, Mantcheva R, Mooney SM. Functional studies of frataxin. Acta Paediatr Suppl. 2004 May;93(445):68-71; discussion 72-3. [Abstract]

Renaud, D. L. Leukodystrophies. 2003. In: Lynn, J., Kissel, J., Newton, H. and A. Rae-Grant, editors. 5 Minute Neurology Consult. Lippencott, Williams & Wilkins. [No Abstract Available]

Renaud DL. Chapter: Case 42 (commentary). 2004. In: Noseworthy J, editor. 50 Neurological Cases from the Mayo Clinic. Oxford University Press. [No Abstract Available]

Walker WA, Cuthbert CD, Ensenauer RE, Rinaldo P, Matern D. Chapter: Inherited Abnormalities in Mitochondrial Fatty Acid Oxidation. Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, Management 4th Edition. Hamilton: BC Decker; 2004. p. 1287-307. [No Abstract Available]

Karthikeyan G, Santos JH, Graziewicz MA, Copeland WC, Isaya G, Van Houten B, Resnick MA. Reduction in frataxin causes progressive accumulation of mitochondrial damage. Hum Mol Genet. 2003 Dec 15;12(24):3331-42. Epub 2003 Oct 21. [Abstract]

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):313-25. [Abstract]

Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J. Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. Review. [Abstract]

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. Journal of Inherited Metabolic Disease 2003 Jul;26(1):55-66. [No Abstract Available]

Nichol H, Gakh O, O'Neill HA, Pickering IJ, Isaya G, George GN. Structure of frataxin iron cores: an X-ray absorption spectroscopic study. Biochemistry. 2003 May 27;42(20):5971-6. [Abstract]

Renaud DL, Clarke JTR. Chapter: Metabolic Myopathies. 2003. In: Noseworthy J, editor. Neurological Therapeutics: Principles and Practice. Tayor & Francis Inc. [No Abstract Available]

Dayan RM, Renaud DL. Early-onset lysosomal glycogen storage disease with normal acid maltase. J Inherit Metab Dis. 2001 Aug;24(4):504-6. [No Abstract Available]

Lagerstedt SA, Hinrichs DR, Batt SM, Magera MJ, Rinaldo P, McConnell JP. Quantitative determination of plasma c8-c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders. Molecular Genetics & Metabolism 2001 May; 73(1):38-45. [Abstract]

Vockley GV, Renaud DL. Chapter: Defects of ß-Oxidation. In: Modern Nutrition in Health and Disease 10th Edition. In Press. [No Abstract Available]