Johan Van Hove, MD, PhD
Professor, Pediatrics-Clinical Genetics and Metabolism

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Medical School:
  • MD, Catholic University of Leuven (1986)
Graduate School :
  • MBA, University of Colorado Denver (2006)
Fellowships:
  • Duke University Hospital Program, Clinical Genetics and Genomics (MD) (1995)
Languages: English
Department: Pediatrics-Clinical Genetics and Metabolism

Professional Titles

  • Professor, Pediatrics-Clinical Genetics and Metabolism
  • Professor
Research interests for Patients:
I am interested in neurometabolic diseases that causes seizures, in particular in non-ketotic hyperglycinemia. I study 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. I am also interested in pyridoxine dependent epilepsy and related metabolic causes of seizures. I am interested in the development of appropriate clinical tests for mitochondrial energy disorders, in the identification and proof of new genetic causes as well as the development of new treatments. Disorders of lipoate metabolism are a particular focus.

Publications

  • Oláhová M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Frésard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 Mar 1;102(3):494-504. PubMed PMID: 29478781
  • Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD. Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. Mitochondrion. 2018 Jan 4. [Epub ahead of print] PubMed PMID: 29307858
  • Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JLK. CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2018 Jan 4. [Epub ahead of print] PubMed PMID: 29300369
  • Vantroys E, Larson A, Friederich M, Knight K, Swanson MA, Powell CA, Smet J, Vergult S, De Paepe B, Seneca S, Roeyers H, Menten B, Minczuk M, Vanlander A, Van Hove J, Van Coster R. New insights into the phenotype of FARS2 deficiency. Mol Genet Metab. 2017 Oct 12. [Epub ahead of print] PubMed PMID: 29126765
  • Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, García-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JLK, Ugarte M, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P. Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. Hum Mutat. 2017 Jun;38(6):678-691. PubMed PMID: 28244183
  • Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ, Van Hove JLK, Freeze HH, Abdenur JE. Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion. 2017 May;34:84-90. PubMed PMID: 28216230
  • Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Ploski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Am J Hum Genet. 2016 Jul 7;99(1):217-27. PubMed PMID: 27374774
  • van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR 2nd, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S. Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. Pediatr Neurol. 2016 Jun;59:6-12. PubMed PMID: 26995068
  • Bennett B, Helbling D, Meng H, Jarzembowski J, Geurts AM, Friederich MW, Van Hove JL, Lawlor MW, Dimmock DP. Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. Free Radic Biol Med. 2016 Jan 7. [Epub ahead of print] PubMed PMID: 26773591
  • Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS, on behalf of the GLIA Consortium. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Jan 29. [Epub ahead of print] PubMed PMID: 25649058
  • Zhang YH, Van Hove JL, McCabe ER, Dipple KM. Gestational Diabetes Associated with a Novel Mutation (378-379insTT) in the Glycerol Kinase Gene. Mol Genet Metab Rep. 2015 Sep 1;4:42-45. PubMed PMID: 26309814
  • Swanson MA, Coughlin CR Jr, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR, Tong S, Williams K, Van Hove JL. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol. 2015 Oct;78(4):606-18. PubMed PMID: 26179960
  • Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR 2nd, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis. 2015 Jun 18;10:79. PubMed PMID: 26081110
  • Coughlin CR 2nd, van Karnebeek CD, Al-Hertani W, Shuen AY, Jaggumantri S, Jack RM, Gaughan S, Burns C, Mirsky DM, Gallagher RC, Van Hove JL. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome. Mol Genet Metab. 2015 Sep-Oct;116(1-2):35-43. PubMed PMID: 26026794
  • Coughlin CR 2nd, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet. 2015 Aug;52(8):532-40. PubMed PMID: 25787132
  • Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A, on behalf of the GLIA Consortium. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 2014 Dec 29. [Epub ahead of print] PubMed PMID: 25655951
  • Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS, on behalf of the GLIA Consortium. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Jan 29. [Epub ahead of print] PubMed PMID: 25649058
  • Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion. 2015 Jan 6;21C:1-10. [Epub ahead of print] PubMed PMID: 25575635
  • Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A, on behalf of the GLIA Consortium. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 2014 Dec 29. [Epub ahead of print] PubMed PMID: 25655951
  • Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2014 Dec 11. [Epub ahead of print] PubMed PMID: 25503498
  • van Karnebeek CD, Stockler-Ipsiroglu S, Jaggumantri S, Assmann B, Baxter P, Buhas D, Bok LA, Cheng B, Coughlin CR 2nd, Das AM, Giezen A, Al-Hertani W, Ho G, Meyer U, Mills P, Plecko B, Struys E, Ueda K, Albersen M, Verhoeven N, Gospe SM Jr, Gallagher RC, Van Hove JK, Hartmann H. Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. JIMD Rep. 2014;15:1-11. PubMed PMID: 24748525
  • Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrial Medicine Society Clinical Directors Working Group, MMS Clinical Director's Work Group. Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges. Mitochondrion. 2014 Jan;14(1):26-33. PubMed PMID: 23891656
  • De Paepe B, Vandemeulebroecke K, Smet J, Vanlander A, Seneca S, Lissens W, Van Hove JL, Deschepper E, Briones P, Van Coster R. Effect of Resveratrol on Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects. Phytother Res. 2013 Apr 26. [Epub ahead of print] PubMed PMID: 23620374
  • Freehauf C, Van Hove JL, Gao D, Bernstein L, Thomas JA. Impact of geographic access to care on compliance and metabolic control in phenylketonuria. Mol Genet Metab. 2013 Jan;108(1):13-7. PubMed PMID: 23177662
  • Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet. 2013 Sep 5;93(3):506-14. PubMed PMID: 24011988
  • De Paepe B, Vandemeulebroecke K, Smet J, Vanlander A, Seneca S, Lissens W, Van Hove JL, Deschepper E, Briones P, Van Coster R. Effect of Resveratrol on Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects. Phytother Res. 2013 Apr 26. [Epub ahead of print] PubMed PMID: 23620374
  • van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S. Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab. 2012 Nov;107(3):335-44. PubMed PMID: 23022070
  • Hennermann JB, Berger JM, Grieben U, Scharer G, Van Hove JL. Prediction of long-term outcome in glycine encephalopathy: a clinical survey. J Inherit Metab Dis. 2012 Mar;35(2):253-61. PubMed PMID: 22002442
  • Bireley WR, Van Hove JL, Gallagher RC, Fenton LZ. Urea cycle disorders: brain MRI and neurological outcome. Pediatr Radiol. 2012 Apr;42(4):455-62. PubMed PMID: 21989980
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Professional Memberships

  • Society for Inherited Metabolic Disorders (SIMD), member
  • Society for the Study of Inborn Errors of Metabolism (SSIEM), member
  • American College of Medical Genetics, member
  • Mitochondrial Medicine Society, member

Practice Locations

Children's Hospital Colorado
13123 East 16th Ave
Aurora, CO 80045
720-777-1234

Hospital Affiliation
  • Children's Hospital Colorado
  • University of Colorado Hospital

Specialty Information

Specialties
  • Clinical Genetics and Genomics (MD), Board Certification (1993, 2003)
  • Clinical Biochemical Genetics, Board Certification (1993, 2003)
Clinical Interest for Patients
I am interested in metabolic disorders, neurometabolic disorders and mitochondrial energy disorders, fatty acid oxidation disorders and ketones utilization disorders.

Care Philosophy
I strive to provide the very best care currently available and to work on developing better care for tomorrow.

General Information

Medical Schools:
  • MD, Catholic University of Leuven (1986)
Graduate Schools:
  • MBA, University of Colorado Denver (2006)
Fellowships:
  • Duke University Hospital Program, Clinical Genetics and Genomics (MD) (1995)
Languages: English
Department: Pediatrics-Clinical Genetics and Metabolism
;