Bookmark and Share


Stephen G. Kahler, M.D.

Picture of Picture ofStephen G. Kahler
  • Professor, College of Medicine, Department of Pediatrics
  • Professor, College of Medicine


  • Genetics & Metabolism


  • Genetics

Contact Information

  • Email:
    Phone: 501-364-2966
    Fax: 501-364-1564
    Address: Arkansas Children's Hospital
    1 Children's Way
    Little Rock, AR 72202


  • M.D., Duke University, 1973
  • A.B., Princeton University, 1969


  • Chief Resident (5 months--shared chief res position), Pediatrics, University Hospital, 1975-1976
  • Internship, Pediatrics, University Hospital, 1973-1974
  • Resident , Pediatrics, University Hospital, 1974-1976
  • Fellowship, Genetics, University of North Carolina School of Medicine, 1977-1980

Licensure and Board Certification

  • American Board of Medical Specialties, Medical Genetics, Clinical Biochemical Genetics
  • American Board of Medical Specialties, Medical Genetics, Clinical Genetics (M.D.)
  • American Board of Medical Specialties, Pediatrics

Clinical & Research Interests

  • Clinical Research, Translational Research, Birth defects, inborn errors of metabolism, autism (especially biochemical and nutritional aspects), and anything with a genetic component; Newborn screening

Recent Publications

  • Journal Article, Parikh S,Goldstein A,Koenig MK,Scaglia F,Enns GM,Saneto R,Anselm I,Collins A,Cohen BH,Debrosse SD,Dimmock D,Falk MJ,Ganesh J,Greene C,Gropman AL,Haas R,Kahler SG,Kamholz J,Kendall F,Korson MS,Mattman A,Milone M,Niyazov D,Pearl PL,Reimschisel T,Salvarinova-Zivkovic R,Sims K,Tarnopolsky M,Tsao CY,van Hove J,Walsh L,Wolfe LA Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges. Mitochondrion 2013 Jul 26.
  • Journal Article, Sanmann JN;Bishay DL;Starr LJ;Bell CA;Pickering DL;Stevens JM;Kahler SG;Olney AH;Schaefer GB;Sanger WG; Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome. Am J Med Genet A 2012 Jun 158A (6): 1285 - 1291.
  • Journal Article, Nitschke Y;Baujat G;Botschen U;Wittkampf T;du MM;Stella J;Le MM;Guest G;Lambot K;Tazarourte-Pinturier MF;Chassaing N;Roche O;Feenstra I;Loechner K;Deshpande C;Garber SJ;Chikarmane R;Steinmann B;Shahinyan T;Martorell L;Davies J;Smith WE;Kahler SG;McCulloch M;Wraige E;Loidi L;Hohne W;Martin L;Hadj-Rabia S;Terkeltaub R;Rutsch F; Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 2012 Jan 13 90 (1): 25 - 39.
  • Journal Article, Melnyk S;Fuchs GJ;Schulz E;Lopez M;Kahler SG;Fussell JJ;Bellando J;Pavliv O;Rose S;Seidel L;Gaylor DW;James SJ; Metabolic imbalance associated with methylation dysregulation and oxidative damage in children with autism. J Autism Dev Disord 2012 Mar 42 (3): 367 - 377.
  • Journal Article, Ware SM;El-Hassan N;Kahler SG;Zhang Q;Ma YW;Miller E;Wong B;Spicer RL;Craigen WJ;Kozel BA;Grange DK;Wong LJ; Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet 2009 May 46 (5): 308 - 314.
  • Journal Article, Stamm DS;Powell CM;Stajich JM;Zismann VL;Stephan DA;Chesnut B;Aylsworth AS;Kahler SG;Deak KL;Gilbert JR;Speer MC; Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. Neurology 2008 Nov 25 71 (22): 1764 - 1769.
  • Journal Article, Stamm DS;Aylsworth AS;Stajich JM;Kahler SG;Thorne LB;Speer MC;Powell CM; Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. Am J Med Genet A 2008 Jul 15 146A (14): 1832 - 1841.
  • Journal Article, Arnold GL;Koeberl DD;Matern D;Barshop B;Braverman N;Burton B;Cederbaum S;Fiegenbaum A;Garganta C;Gibson J;Goodman SI;Harding C;Kahler S;Kronn D;Longo N; A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 2008 Apr 93 (4): 363 - 370.
  • Journal Article, Herbert MR., Russo JP., Yang S., Roohi J., Blaxill M., Kahler SG., Cremer L., Hatchwell E. Autism and environmental genomics. Neurotoxicology 2006 Sep; 27(5):671 - 684.
  • Journal Article, Hur DJ;Raymond GV;Kahler SG;Riegert-Johnson DL;Cohen BA;Boyadjiev SA; A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. Am J Med Genet A 2005 May 15 135 (1): 36 - 40.

Recent Grant Awards

  • A Phase 3/4, Prospective, Multinational, Open-Label, Noninferiority Study of Alglucosidase Alfa Manufactured at the 160L and 4000L Scales in Treatment Naive Patients with Infantile-Onset POMPE Disease, Genyme, AGLUB7510 PEAS, 2013-07-01 00:00:00-2014-06-30 00:00:00
  • A Phase 4, Open-Label, Prospective Study in Patients with Pompe Disease to Evaluate the Efficacy and Safety of Algulcosidase, Alfa Produced at the 4000 L Scale, Genyme, AGLU09411, 2012-04-05 00:00:00-2014-03-31 00:00:00
  • Kahler F&A Match Award, ACHRI, 2013-09-01 00:00:00-2014-06-30 00:00:00

Services and Information