Erle Kristensen

  • Chief Consultant; MD
  • +47 230 71 002


  • 2022–to date: PhD candidate, University of Bergen, Norway
  • 2000–2006: MD, University of Bergen, Norway


Research Summary

Dr. Kristensen is currently a PhD candidate studying POLG disease. Using data from a large Norwegian and European cohort of POLG patients, the main objectives are to describe the natural history and epidemiology of POLG disease, and to investigate possible relationships between genotype and phenotypic expression. She also takes a particular interest in pyridoxine (vitamin B6) and pyridoxine responsive epilepsy, and is a member of the international PDE Consortium (PDE Consortium). 

Work Experience

  • September 2020–to date, and January 2019–December 2019: Senior consultant, Norwegian National Unit for Screening and Diagnostics of Congenital Pediatric Metabolic Disorders, Oslo University Hospital, Norway
  • January 2020–September 2020, and January 2017–December 2018: Senior consultant Norwegian National Unit for Newborn Screening, Oslo University Hospital, Norway
  • June 2015–December 2016: Fellow in pediatrics, Department of pediatrics and adolescent medicine, Akershus University Hospital, Norway
  • February 2009–June 2015: Fellow in pediatrics, Department of pediatrics, Hospital of Bodø, Norway


NB: Check out our NEWS PAGE for the latest!


Publications 2024

Arntsen V, Jamali A, Sikiric A, Kristensen E, Tangeraas T, Kupliauskiene G, Stefansdottir S, Bindoff LA, Sand T, Brodtkorb E (2024)
Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study
Front Neurol, 15, 1355861
DOI 10.3389/fneur.2024.1355861, PubMed 38419708

Kristensen E, Mathisen L, Berland S, Klingenberg C, Brodtkorb E, Rasmussen M, Tangeraas T, Bliksrud YT, Rahman S, Bindoff LA, Hikmat O (2024)
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
Ann Clin Transl Neurol (in press)
DOI 10.1002/acn3.52088, PubMed 38845467

Publications 2023

Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E (2023)
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study
Epilepsy Res, 190, 107099
DOI 10.1016/j.eplepsyres.2023.107099, PubMed 36731270

Jamali A, Kristensen E, Tangeraas T, Arntsen V, Sikiric A, Kupliauskiene G, Myren-Svelstad S, Berland S, Sejersted Y, Gerstner T, Hassel B, Bindoff LA, Brodtkorb E (2023)
Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099]
Epilepsy Res, 198, 107113
DOI 10.1016/j.eplepsyres.2023.107113, PubMed 36906427

Tangeraas T, Kristensen E, Mørkrid L, Elind E, Bliksrud YT, Eide L (2023)
Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease
JIMD Rep, 64 (5), 360-366
DOI 10.1002/jmd2.12380, PubMed 37701324

Tangeraas T, Ljungblad UW, Lutvica E, Kristensen E, Rowe AD, Bjørke-Monsen AL, Rootwelt-Revheim T, Sæves I, Pettersen RD (2023)
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway
Int J Neonatal Screen, 9 (1)
DOI 10.3390/ijns9010003, PubMed 36648770

Tsykunova G, Kristensen E, Stray-Pedersen A, Bruserud Ø, Sørensen IW, Bruserud Ø, Tvedt THA (2023)
Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation
Hematology, 28 (1), 2265187
DOI 10.1080/16078454.2023.2265187, PubMed 38078487

Publications 2022

Böhm HO, Yazdani M, Sandås EM, Østeby Vassli A, Kristensen E, Rootwelt H, Skogvold HB, Brodtkorb E, Elgstøen KBP (2022)
Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency
Int J Mol Sci, 23 (24)
DOI 10.3390/ijms232416061, PubMed 36555701

Rustad CF, Prescott TE, Merckoll E, Kristensen E, Salvador CL, Nordgarden H, Tveten K (2022)
Phenotypic expansion of ARSK-related mucopolysaccharidosis
Am J Med Genet A, 188 (11), 3369-3373
DOI 10.1002/ajmg.a.62934, PubMed 35959767

Ørstavik K, Arntzen KA, Mathisen P, Backe PH, Tangeraas T, Rasmussen M, Kristensen E, Van Ghelue M, Jonsrud C, Bliksrud YT (2022)
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
JIMD Rep, 63 (3), 193-198
DOI 10.1002/jmd2.12276, PubMed 35433169

Publications 2021

Bendiksen Skogvold H, Yazdani M, Sandås EM, Østeby Vassli A, Kristensen E, Haarr D, Rootwelt H, Elgstøen KBP (2021)
A pioneer study on human 3-nitropropionic acid intoxication: Contributions from metabolomics
J Appl Toxicol, 42 (5), 818-829
DOI 10.1002/jat.4259, PubMed 34725838

Publications 2020

Coughlin CR, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL et al. (2020)
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
J Inherit Metab Dis, 44 (1), 178-192
DOI 10.1002/jimd.12332, PubMed 33200442

Tangeraas T, Sæves I, Klingenberg C, Jørgensen J, Kristensen E, Gunnarsdottir G, Hansen EV, Strand J, Lundman E, Ferdinandusse S, Salvador CL, Woldseth B, Bliksrud YT, Sagredo C, Olsen ØE, Berge MC, Trømborg AK, Ziegler A, Zhang JH, Sørgjerd LK, Ytre-Arne M, Hogner S, Løvoll SM, Kløvstad Olavsen MR, Navarrete D et al. (2020)
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
Int J Neonatal Screen, 6 (3), 51
DOI 10.3390/ijns6030051, PubMed 33123633

Publications 2017

Mirinaviciute G, Kristensen E, Nakstad B, Flem E (2017)
Varicella-related Primary Health-care Visits, Hospitalizations and Mortality in Norway, 2008-2014
Pediatr Infect Dis J, 36 (11), 1032-1038
DOI 10.1097/INF.0000000000001656, PubMed 28657969

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