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Johan L. Van Hove, MD, PhD

Professor of Pediatrics

Johan L. Van Hove, MD, PhD

Medical Degree

  • Catholic University Leuven, Belgium, 1986


  • Pediatrics, University Hospital Leuven, Belgium, 1986-2000


  • Clinical Genetics and Biochemical Genetics, Duke University Medical Center, 2000-2003
  • Research Fellow, Duke University Medical Center, 2003-2005

Dr. Van Hove is interested in the development of new treatment for inherited metabolic diseases.

Dr. Van Hove has an interest in neurometabolic diseases that causes seizures, in particular in non-ketotic hyperglycinemia. Dr. Van Hove studies the genetic basis, the clinical spectrum, the prediction of outcome including the relation between genotype and phenotype, the pathogenesis in animal models and human patients and the development of new treatments for this condition. Dr. Van Hove is also interested in pyridoxine dependent epilepsy and related metabolic causes of seizures.

Dr. Van Hove studies energy disorders including mitochondrial respiratory chain diseases and fatty acid oxidation disorders. He is particularly interested in the development of diagnostic assays and in new treatments for these conditions. This has resulted in the use of D,L-3-hydroxybutyrate in severe fatty acid oxidation disorders such as multiple acyl-CoA dehydrogenase deficiency.

Dr. Van Hove directs the mitochondrial core enzyme laboratory for the Childhood Liver Disease Research and Education Network.

  • Board of Directors, Society for Inherited Metabolic Diseases, 2007-present
  • Editorial Board, Journal of Inherited Metabolic Diseases, 2004-present
  • Member, Advisory Board for Mountain States Genetics Regional Collaborative Center, 2008-2011
  • Board of Directors, Society of Inborn Errors of Metabolism, 2010
  • Award of the Fund of Dr. And Ms. Schamelhout-Koettlitz,  Academy of Medicine of Belgium, 1996-1997
  • Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene. J LK Van Hove, C Freehauf, S Miyamoto, G D Vladutiu, J Pancrudo, E Bonilla, M Lovell, G W Mierau, J A Thomas, S Shanske. Eur J Pediatr 2008 Jul;167(7):771-776.
  • Management of a patient with holocarboxylase synthetase deficiency. Johan L.K. Van Hove, Sagi Josefsberg, Cynthia Freehauf, Janet A Thomas, Le Phuc Thuy, Bruce A Barshop, Michael Woontner, Donald M Mock, Pei-Wen Chiang, Elaine Spector,Iván Meneses-Morales, Rafael Cervantes-Roldán, Alfonso León-Del-Río Mol. Genet. Metabol. 2008; 95(4):201-205.
  • Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Renata C. Gallagher*, Johan L.K. Van Hove*, Gunter Scharer, Keith Hyland, Barbara Plecko, Paula J. Waters, Saadet Mercimek-Mahmutoglu, Sylvia Stockler-Ipsiroglu, Gajja S. Salomons, Efraim H. Rosenberg, Eduard A. Struys, Cornelis Jakobs. Ann. Neurol 2009;65(5):550-556 *equal contribution
  • Finding Twinkle in the Eyes of a 71-Year-Old Lady.  A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. Johan LK Van Hove, Vicki Cunningham, Cathlin Rice, Steven P Ringel, Qing Zhang, Ping-Chieh Chou, Cavatina K Truong, Lee-Jun C Wong. Am J Med Genet A 2009;149A(5):861-867.
  • Acute nutrition management in the prevention of metabolic illness: a practical approach with glucose polymers. Johan LK Van Hove, Sommer Myers, Kristel Vande Kerckhove, Cynthia Freehauf, Laurie Bernstein. Mol Genet Metabol 2009;97(1):1-3.
  • Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalopathy. J Van Hove*, M Saenz*, J Zauche, J Thomas, R Gallagher, M Lovell, L Fenton, S Shanske, S Meyers, R Wanders, J Ruiter, M Turkenburg, H Waterham Pediatr Res 2010 May 5, Epub ahead of Print DOI: 10.1203/PDR.0b013e3181e5c3a4 * equal contribution
  • Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A; GAA Database Consortium (member of the consortium). Hum Mutat. 2008 Jun;29(6):E13-26
  • High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. Shchelochkov OA, Li FY, Geraghty MT, Gallagehr RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong LJ. Mol Genet Metab 2009;96:97-105.
  • A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. G L Arnold, J Van Hove, D Freedenberg, A Strauss, N Longo, B Burton, C Garganta, C Ficicioglu, S Cederbaum, C Harding, R G Boles, D Matern, P Chakraborty, A Feigenbaum. Mol Genet Metab 2009; 96:85-90.
  • Mutation detection in DNA isolated from cerebrospinal fluid and urine: clinical utitlity and pitfalls of multiple displacement amplificiation. E H Rosenberg, E A Struys, K Hyland, B Plecko, P J Waters, S Mercimek-Mahmutoglu, S Stockler-Ipsiroglu, R C Gallagher, G Scharer, J LK Van Hove, C Jakobs, G S Salomons. Mol Genet Metab 2009;97(4):312-314.
  • A novel POLG gene mutation in four children with Alpers-like hepatocerebral syndromes. Bulent K, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman D B, Jayakar P, Naini A, Wierenga K J, Van Goethem G, Copeland W C, DiMauro S. Arch Neurol 2010;67(2):231-235.
  • Neonatal Liver Failure: A Genetic and Metabolic Perspective. Margarita Sifuentes Saenz, Johan Van Hove, Gunter Scharer. Curr Opin Pediatr 2010; 22(2): 241-245.
  • MSGRCC Metabolic newobrn screening long-term follow-up study: a collaborative multi-site approach to newborn screening outcome research. Erica L. Wright, Janet Thomas, Johan L.K. Van Hove and the Mountain States Metabolic Consortium. Genetics in Medicine (accepted)
  • Glycine Encephalopathy. A Hamosh, J Van Hove, G Scharer. GeneReviews. 9-24-2009. Available at:

Our laboratory provides diagnostic testing for respiratory chain enzyme diseases. We perform spectrophotometric respiratory chain enzyme assays in all tissues and are developing additional testing such as blue native PAGE analyses.