Fatty Acid Oxidation Disorders Diagnostic Testing Program

  • Meet the Team

    Our specialists in the Fatty Acid Oxidation Disorders Diagnostic Testing Program are available to you for pre- or post-test consultation.

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    Clinical Experts

    A photo of Nancy Doan Leslie.

    Nancy Doan Leslie, MD
    Interim Co-Director, Division of Human Genetics

    513-636-2438

    nancy.leslie@cchmc.org

    Nancy Doan Leslie, MD

    Interim Co-Director, Division of Human Genetics

    Director, Clinical Genetics Fellowship Program

    Professor, UC Department of Pediatrics

    Phone: 513-636-2438

    Fax: 513-636-7297

    Email: nancy.leslie@cchmc.org

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    Specialties

    Clinical Interests

    Galactosemia; PKU; inborn errors; newborn screening; lysosomal storage disease

    Research Interests

    Focus on inborn errors of metabolism, with an emphasis on long term outcome in PKU and in the molecular biology of galactosemia

    Education and Training

    MD: Washington University, St. Louis, MO, 1975-1979. 

    Internship and Residency: University of Cincinnati College of Medicine, Cincinnati, OH.

    Fellowship: Pediatric Endocrinology, Cincinnati Children's Hospital Medical Center,OH, 1982-1985; Clinical Genetics and Clinical Biochemical Genetics, Cincinnati Children's Hospital Medical Center, OH, 1993-1995.

    Certification: American Board of Pediatrics, 1986; American Board of Pediatrics, Sub-Board of Pediatric Endocrinology, 1989; American Board of Medical Genetics, Board-Certified in Clinical Genetics and Clinical Biochemical Genetics, 1996, Active in MOC.

    Publications

    View PubMed Publications
    A photo of Dr. Arnold Strauss.

    Arnold W. Strauss, MD
    Associate Director for External Relations and Strategic Projects, Cincinnati Children's Research Foundation

    513-636-2942

    arnold.strauss@cchmc.org

    Arnold W. Strauss, MD

    Associate Director for External Relations and Strategic Projects, Cincinnati Children's Research Foundation

    Professor, UC Department of Pediatrics

    Phone: 513-636-2942

    Email: arnold.strauss@cchmc.org

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    Specialties

    Pediatric cardiology; genetic basis of pediatric heart disease

    Biography

    Arnold Strauss, MD, joined Cincinnati Children's in April, 2007, as chairman of the Department of Pediatrics at the UC College of Medicine, chief medical officer of Cincinnati Children's and director of the Cincinnati Children's Research Foundation. He is the seventh B.K. Rachford Memorial Chair in Pediatrics.

    Dr. Strauss is a distinguished pediatric cardiologist, scientist, educator and leader. Prior to his arrival at Cincinnati Children's, he was the chairman of the Department of Pediatrics at the Vanderbilt University School of Medicine and medical director of the Monroe Carell Jr. Children's Hospital at Vanderbilt, a position he held from 2000 to 2007. Under his leadership, the university built and opened a new hospital for children, expanded its pediatric faculty and increased grant funding for pediatric research. From 1981 to 2000, Strauss was director of the Division of Pediatric Cardiology at Washington University/St. Louis Children's Hospital.

    A respected scientist, Dr. Strauss' research focuses on understanding the molecular basis of disorders of mitochondrial fatty acid oxidation and the genetic causes of congenital heart disease and cardiomyopathies. He is the recipient of two of the most prestigious awards in research. In November 2006 he was awarded the American Heart Association's Basic Science Research Award for groundbreaking work that led to finding genetic defects that can cause heart failure and sudden death in infants and children. In 1991 he received the E. Mead Johnson Award for Excellence in Pediatric Research.

    Education and Training

    MD: Washington University, St. Louis, Missouri, 1970.

    Residency: Pediatrics, Children's Hospital, St. Louis, Missouri, 1970-72.

    Fellowship: Cardiology, Children's Hospital and Washington University, St. Louis, Missouri, 1972-75.

    Postdoctoral Fellowship: Merck, Sharp and Dohme Research Laboratories, Rahway, New Jersey, 1975-77.

    Publications

    View PubMed Publications

    Liebig M, Schymik I, Mueller M, Wendel U, Mayatepek E, Ruiter J, Strauss AW, Wanders RJ, Spiekerkoetter U. (2006) Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics 118:1065-9.

    Khuchua Z, Yue Z, Batts L, Strauss AW. (2006) A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function. Circ Res 99:201-8.

    Exil VJ, Gardner CD, Rottman JN, Sims H, Bartelds B, Khuchua Z, Sindhal R, Ni G, Strauss AW. (2006) Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase. Am J Physiol Heart Circ Physiol 290:H1289-97.

    Bennett MJ, Russell LK, Tokunaga C, Narayan SB, Tan L, Seegmiller A, Boriack RL, Strauss AW. (2006) Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase. Mol Genet Metab 89:74-9.

    Strauss AW. (2005) Surprising? Perhaps not. Long-chain fatty acid oxidation during human fetal development. Pediatr Res 57:753-4.

    Spiekerkoetter U, Tokunaga C, Wendel U, Mayatepek E, Ijlst L, Vaz FM, van Vlies N, Overmars H, Duran M, Wijburg FA, Wanders RJ, Strauss AW. (2005) Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. Pediatr Res 57:760-4.

    Shekhawat PS, Matern D, Strauss AW. (2005) Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management. Pediatr Res 57:78R-86R.

    Djouadi F, Aubey F, Schlemmer D, Ruiter JP, Wanders RJ, Strauss AW, Bastin J. (2005) Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders. Hum Mol Genet 14:2695-703.

    Browning MF, Larson C, Strauss A, Marsden DL. (2005) Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects. J Inherit Metab Dis 28:545-50.

    Strauss AW. (2004) Tandem mass spectrometry in discovery of disorders of the metabolome. J Clin Invest 113:354-6.

    Spierkerkoetter U, Khuchua Z, Yue Z, Strauss AW. (2004) The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement. J Inherit Metab Dis 27:294-6.

    Spiekerkoetter U, Tokunaga C, Wendel U, Mayatepek E, Exil V, Duran M, Wijburg FA, Wanders RJ, Strauss AW. (2004) Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress. Eur J Clin Invest 34:191-6.

    Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW. (2004) General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. Pediatr Res 55:190-6.

    Spiekerkoetter U, Bennett MJ, Ben-Zeev B, Strauss AW, Tein I. (2004) Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein. Muscle Nerve 29:66-72.

    McKinney JT, Longo N, Hahn SH, Matern D, Rinaldo P, Strauss AW, Dobrowolski SF. (2004) Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. Mol Genet Metab 82:112-20.

    Strauss A, Lock JE. (2003) Pediatric cardiomyopathy--a long way to go. N Engl J Med 348:1703-5.

    Spiekerkoetter U, Sun B, Zytkovicz T, Wanders R, Strauss AW, Wendel U. (2003) MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr 143:335-42.

    Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW. (2003) Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat 21:598-607.

    Shekhawat P, Bennett MJ, Sadovsky Y, Nelson DM, Rakheja D, Strauss AW. (2003) Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases. Am J Physiol Endocrinol Metab 284:E1098-105.

    Khuchua Z, Wozniak DF, Bardgett ME, Yue Z, McDonald M, Boero J, Hartman RE, Sims H, Strauss AW. (2003) Deletion of the N-terminus of murine map2 by gene targeting disrupts hippocampal ca1 neuron architecture and alters contextual memory. Neuroscience 119:101-11.

    Exil VJ, Roberts RL, Sims H, McLaughlin JE, Malkin RA, Gardner CD, Ni G, Rottman JN, Strauss AW. (2003) Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice. Circ Res 93:448-55.

    Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF. (2001) Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem 47:1945-55.

    Ibdah JA, Paul H, Zhao Y, Binford S, Salleng K, Cline M, Matern D, Bennett MJ, Rinaldo P, Strauss AW. (2001) Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. J Clin Invest 107:1403-9.

    Barycki JJ, O'Brien LK, Strauss AW, Banaszak LJ. (2000) Sequestration of the active site by interdomain shifting. Crystallographic and spectroscopic evidence for distinct conformations of L-3-hydroxyacyl-CoA dehydrogenase. J Biol Chem 275:27186-96.

    Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW. (1999) A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 340:1723-31.


    A photo of Alexander Valencia.

    C. Alexander Valencia, PhD
    Assistant Director, Molecular Genetics Laboratory

    513-803-9033

    alexander.valencia@cchmc.org

    C. Alexander Valencia, PhD

    Assistant Director, Molecular Genetics Laboratory

    Assistant Professor, UC Department of Pediatrics

    Phone: 513-803-9033

    Email: alexander.valencia@cchmc.org

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    Specialties

    Proteomics, apoptosis, degradomics, protein-protein interactions, genomics, clinical molecular genetics, genetic testing, molecular diagnostics, next-generation sequencing  

    Biography

    C. Alexander Valencia, PhD, is a biochemist and clinical molecular geneticist who has basic and translational research programs in genomics and proteomics. His laboratory studies the biochemical mechanisms of apoptosis through a novel proteomic method called mRNA-display. Moreover, his translational research program, in the area of clinical molecular genetics, addresses the implementation of new molecular diagnostic platforms, including next-generation sequencing, in clinical genetic testing.

    Education and Training

    PhD: Ottawa-Carleton Institute of Biology, Carleton University, Ottawa, ON, 2004.

    Postdoctoral Research Fellowship: Carolina Center for Genome Sciences and Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, NC, 2009.

    Clinical Fellowship: Clinical Molecular Genetics, Department of Human Genetics, Emory University School of Medicine, GA, 2012.

    Publications

    View PubMed Publications
    A photo of Kejian Zhang.

    Kejian Zhang, MD, MBA
    Director, Molecular Genetics Laboratory

    513-636-0121

    kejian.zhang@cchmc.org

    Kejian Zhang, MD, MBA

    Director, Molecular Genetics Laboratory

    Associate Professor, UC Department of Pediatrics

    Phone: 513-636-0121

    Fax: 513-636-2261

    Email: kejian.zhang@cchmc.org

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    Specialties

    Clinical Interests

    Molecular genetics diagnosis of inherited immunodeficiency disorders and other genetic conditions

    Research Interests

    Molecular defects and molecular diagnosis of primary immunodeficiency diseases; Genetic aspects of predictive personalized medicine (pharmacogenetics)

    Education and Training

    MD: Tianjin Medical University, Tianjin, China, 1993

    MBA: University of Cincinnati, College of Business Administration, 2001

    Residency: Gong'an Hospital, Tianjin, China, 1993-1995

    Fellowship: Clinical Molecular Genetics Fellow, Division of Human Genetics, Cincinnati Children's Hospital, 2002-2004

    Publications

    View PubMed Publications

    Grants

    Macrophage Activation Syndrome Biomarkers in Systemic Juvenile Idiopathic Arthritis. Co-investigator. National Institute of Arthritis, Musculoskeletal and Skin Diseases. Aug 2007 - Dec 2012.

    MUNC13-4 gene Polymorphisms in Macrophage Activation syndrome and Systemic Juvenile Idiopathic Arthritis. Co-Investigator. National Institute of Health. Sept 2011 - Aug 2016.