Photo of David M. Koeller, M.D.

David M. Koeller M.D.

  • (503) 494-8307
    • Professor of Molecular and Medical Genetics School of Medicine
    • Molecular and Medical Genetics Graduate Program School of Medicine

Dr. Koeller has a diverse research background that includes basic studies of yeast mitochondrial iron metabolism, mammalian cellular iron metabolism, and the development and characterization of a mouse model of Glutaric Acidemia Type 1 (GA-I), an inherited disorder of lysine metabolism.

His current research includes an epidemiologic study of the possible impact of traditional Alaska Native foods on the health effects of a genetic variant in the CPT1A gene that he has previously shown to be a risk factor for infectious diseases and infant mortality in Alaska Native infants.

Dr. Koeller is also the Co-PI of the Metabolomics Core for the NIH Undiagnosed Disease Network. The Metabolomics Core is a joint project with investigators at the US Department of Energy’s Pacific Northwest National Laboratory, in Richland, WA.

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Education

  • M.D., University of Illinois James Scholar Program 1982
  • Residency:

    • University of Minnesota, Minneapolis, MN
  • Fellowship:

    • Fellowship in research, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD
  • Certifications:

    • American Board of Pediatrics, 1988

Memberships and associations

  • American College of Medical Genetics & Genomics,

Publications

  • "A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3." American Journal of Human Genetics  In: , Vol. 100, No. 1, 05.01.2017, p. 128-137.
  • "Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I : second revision." Journal of Inherited Metabolic Disease  In: , 16.11.2016, p. 1-27.
  • "Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease : 18-month results from the randomised phase III ATTRACT study." Journal of Medical Genetics  In: , 10.11.2016.
  • "De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype." American Journal of Human Genetics  In: , Vol. 99, No. 4, 06.10.2016, p. 991-999.
  • "Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A." Genetics in Medicine In: , Vol. 18, No. 9, 01.09.2016, p. 933-939.
  • "LmABCB3, an atypical mitochondrial ABC transporter essential for Leishmania major virulence, acts in heme and cytosolic iron/sulfur clusters biogenesis." Parasites and Vectors In: , Vol. 9, No. 1, 1284, 05.01.2016.
  • "Normal vitamin D levels and bone mineral density among children with inborn errors of metabolism consuming medical food-based diets." Nutrition Research In: , Vol. 36, No. 1, 01.01.2016, p. 101-108.
  • "Arginine : Glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide." Molecular Genetics and Metabolism  In: , 04.09.2015.
  • "Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I." Biochimica et Biophysica Acta - Molecular Basis of Disease  In: , Vol. 1852, No. 5, 01.05.2015, p. 768-777.
  • "Acute lysine overload provokes protein oxidative damage and reduction of antioxidant defenses in the brain of infant glutaryl-CoA dehydrogenase deficient mice : A role for oxidative stress in GA i neuropathology." Journal of the Neurological Sciences  In: , Vol. 344, No. 1-2, 15.09.2014, p. 105-113.
  • "Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of Gcdh-/- mice : Possible implications for the neuropathology of glutaric acidemia type I." PLoS One  In: , Vol. 9, No. 3, e90477, 04.03.2014.
  • "Reply." Journal of Pediatrics In: , Vol. 165, No. 2, 2014, p. 420-422.
  • "Reply." Journal of Pediatrics In: , Vol. 165, No. 2, 2014, p. 419-420.
  • "Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I." Acta neuropathologica communications  In: , Vol. 2, 2014, p. 13.
  • "Association of a genetic variant of carnitine palmitoyltransferase 1a with infections in alaska native children." Journal of Pediatrics In: , Vol. 163, No. 6, 12.2013, p. 1716-1721.
  • "Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1." Biochimica et Biophysica Acta - Molecular Basis of Disease  In: , Vol. 1832, No. 10, 10.2013, p. 1463-1472.
  • "Neurodevelopmental and cognitive behavior of glutaryl-CoA dehydrogenase deficient knockout mice." Life Sciences  In: , Vol. 92, No. 2, 07.02.2013, p. 137-142.
  • "Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation." Molecular Genetics and Metabolism  In: , Vol. 108, No. 1, 01.2013, p. 30-39.
  • "Reduction of Na+, K+-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice : A possible mechanism for brain injury in glutaric aciduria type I." Molecular Genetics and Metabolism  In: , Vol. 107, No. 3, 11.2012, p. 375-382.
  • "Marked reduction of Na+, K+-ATPase and creatine kinase activities induced by acute lysine administration in glutaryl-CoA dehydrogenase deficient mice." Molecular Genetics and Metabolism  In: , Vol. 107, No. 1-2, 09.2012, p. 81-86.
  • "Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience." Molecular Genetics and Metabolism  In: , Vol. 107, No. 1-2, 09.2012, p. 72-80.
  • "Induction of oxidative stress in brain of glutaryl-CoA dehydrogenase deficient mice by acute lysine administration." Molecular Genetics and Metabolism  In: , Vol. 106, No. 1, 05.2012, p. 31-38.
  • "Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant." Molecular Genetics and Metabolism In: , Vol. 104, No. 3, 11.2011, p. 261-264.
  • "Diagnosis and management of glutaric aciduria type I - Revised recommendations." Journal of Inherited Metabolic Disease  In: , Vol. 34, No. 3, 06.2011, p. 677-694.
  • "Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells." Journal of Biological Chemistry  In: , Vol. 286, No. 20, 20.05.2011, p. 17777-17784.
  • "Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I." Brain  In: , Vol. 134, No. 1, 01.2011, p. 157-170.
  • "Prevalence and distribution of the c.1436C→T sequence variant of carnitine palmitoyltransferase 1A among Alaska native infants." Journal of Pediatrics In: , Vol. 158, No. 1, 01.2011, p. 46-51.
  • "Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant." Pediatrics In: , Vol. 126, No. 5, 11.2010, p. 945-951.
  • "Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice." Blood In: , Vol. 115, No. 16, 22.04.2010, p. 3374-3381.
  • "Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1." Biochimica et Biophysica Acta - Molecular Basis of Disease  In: , Vol. 1782, No. 6, 06.2008, p. 385-390.

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