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University of Bergen
Pediatric Follow-up Group

Inborn errors of metabolism

Main content

Lysosomal storage disease e.g. Fabry disease and mithochondial disease e.g. POLG disease are seldom, but put together as orphan diseases affect relatively many patients in pediatric care. The diagnostics and care of these diseases have special challenges due to the relatively low number of patients with each specific disease.

 

Peer review publications

  1. Bichet DG, Hopkin RJ, Aguiar P, Allam SR, Chien YH, Giugliani R, Kallish S, Kineen S, Lidove O, Niu DM, Olivotto I, Politei J, Rakoski P, Torra R, Tøndel C, Hughes DA. Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study. Front Med (Lausanne). 2023 Sep 1;10:1220637. doi: 10.3389/fmed.2023.1220637. PMID: 37727761; PMCID: PMC10505750.
  2. Burlina A, Brand E, Hughes D, Kantola I, Krӓmer J, Nowak A, Tøndel C, Wanner C, Spada M. An expert consensus on the recommendations for the use of biomarkers in Fabry disease. Mol Genet Metab. 2023 Jun;139(2):107585. doi: 10.1016/j.ymgme.2023.107585. Epub 2023 Apr 17. PMID: 37207471.
  3. Hopkin RJ, Cabrera GH, Jefferies JL, Yang M, Ponce E, Brand E, Feldt-Rasmussen U, Germain DP, Guffon N, Jovanovic A, Kantola I, Karaa A, Martins AM, Tøndel C, Wilcox WR, Yoo HW, Burlina AP, Mauer M. Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry. Mol Genet Metab. 2023 Feb;138(2):106967. doi: 10.1016/j.ymgme.2022.106967. Epub 2022 Nov 30. PMID: 36709533.
  4. Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M, Hikmat O, Isohanni P, Kollberg G, Lindberg C, Majamaa K, Naess K, Uusimaa J, Tulinius M, Darin N. Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. J Med Genet. 2023 Jan;60(1):65-73. doi: 10.1136/jmedgenet-2021-108006. Epub 2021 Dec 6. PMID: 34872991; PMCID: PMC9811091.
  5. Berland S, Rustad CF, Bentsen MHL, Wollen EJ, Turowski G, Johansson S, Houge G, Haukanes BI. Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006113. doi: 10.1101/mcs.a006113. PMID: 34615670; PMCID: PMC8751407.
  6. Varhaug KN, Hikmat O, Bindoff LA. Mitokondriesykdom forårsaket av m.3243A>G-mutasjonen [Mitochondrial disease caused by the m.3243A>G mutation]. Tidsskr Nor Laegeforen. 2022 Jun 27;142(10). Norwegian. doi: 10.4045/tidsskr.21.0729. PMID: 35763848.
  7. Parasyri M, Brandström P, Uusimaa J, Ostergaard E, Hikmat O, Isohanni P, Naess K, de Coo IFM, Nascimento Osorio A, Nuutinen M, Lindberg C, Bindoff LA, Tulinius M, Darin N, Sofou K. Renal Phenotype in Mitochondrial Diseases: A Multicenter Study. Kidney Dis (Basel). 2022 Jan 24;8(2):148-159. doi: 10.1159/000521148. PMID: 35527992; PMCID: PMC9021658.
  8. Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskär KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V, Rahman S. Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. Ann Clin Transl Neurol. 2021 Nov;8(11):2155-2165. doi: 10.1002/acn3.51470. Epub 2021 Oct 18. PMID: 34662929; PMCID: PMC8607453.
  9. Varhaug KN, Hikmat O, Nakkestad HL, Vedeler CA, Bindoff LA. Serum biomarkers in primary mitochondrial disorders. Brain Commun. 2021 Jan 4;3(1):fcaa222. doi: 10.1093/braincomms/fcaa222. PMID: 33501425; PMCID: PMC7811758.
  10. Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CME, Samsonsen C, Brodtkorb E, Ostergaard E, de Coo R, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA. The impact of gender, puberty, and pregnancy in patients with POLG disease. Ann Clin Transl Neurol. 2020 Oct;7(10):2019-2025. doi: 10.1002/acn3.51199. Epub 2020 Sep 18. PMID: 32949115; PMCID: PMC7545595.
  11. Lehtonen JM, Auranen M, Darin N, Sofou K, Bindoff L, Hikmat O, Uusimaa J, Vieira P, Tulinius M, Lönnqvist T, de Coo IF, Suomalainen A, Isohanni P. Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease. J Inherit Metab Dis. 2021 Mar;44(2):469-480. doi: 10.1002/jimd.12307. Epub 2020 Sep 21. PMID: 32857451.
  12. Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Ostergaard E, de Coo IFM, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA. Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. J Inherit Metab Dis. 2020 Jul;43(4):726-736. doi: 10.1002/jimd.12211. Epub 2020 Jan 23. PMID: 32391929.
  13. Berland S, Haukanes BI, Juliusson PB, Houge G. Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay. J Med Genet. 2022 Feb;59(2):155-164. doi: 10.1136/jmedgenet-2020-107401. Epub 2020 Dec 21. PMID: 33443097; PMCID: PMC8788247.
  14. Hikmat O, Varhaug KN, Bindoff LA. Polymerase gamma-relatert mitokondriesykdom [Polymerase gamma-related mitochondrial disorder]. Tidsskr Nor Laegeforen. 2020 Jan 13;140(1). Norwegian. doi: 10.4045/tidsskr.19.0368. PMID: 31948198.
  15. Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P; Deciphering Developmental Disorders Study; Smithson S. PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases. Am J Med Genet A. 2019 Sep;179(9):1884-1894. doi: 10.1002/ajmg.a.61282. Epub 2019 Jul 16. PMID: 31313512.
  16. Drage Berentsen R, Haukanes BI, Júlíusson PB, Rosendahl K, Houge G. A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss. Mol Syndromol. 2019 Jan;9(5):228-234. doi: 10.1159/000492418. Epub 2018 Aug 15. PMID: 30733656; PMCID: PMC6362854.
  17. Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. PMID: 30017653.
  18. Spada M, Baron R, Elliott PM, Falissard B, Hilz MJ, Monserrat L, Tøndel C, Tylki-Szymańska A, Wanner C, Germain DP. The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts. Mol Genet Metab. 2019 Mar;126(3):212-223. doi: 10.1016/j.ymgme.2018.04.007. Epub 2018 Apr 26. PMID: 29785937.
  19. Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, Flanagan SE, Babiker T, Thomas NJ, Shepherd MH, Ellard S, Klimes I, Szopa M, Polak M, Iafusco D, Hattersley AT, Njølstad PR; Neonatal Diabetes International Collaborative Group. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. Lancet Diabetes Endocrinol. 2018 Aug;6(8):637-646. doi: 10.1016/S2213-8587(18)30106-2. Epub 2018 Jun 4. Erratum in: Lancet Diabetes Endocrinol. 2018 Sep;6(9):e17. PMID: 29880308; PMCID: PMC6058077.
  20. Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110. PMID: 29205472; PMCID: PMC5847115.
  21. Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA. The presence of anaemia negatively influences survival in patients with POLG disease. J Inherit Metab Dis. 2017 Nov;40(6):861-866. doi: 10.1007/s10545-017-0084-9. Epub 2017 Sep 1. Erratum in: J Inherit Metab Dis. 2017 Sep 26;: PMID: 28865037.
  22. Bjellmo S, Andersen GL, Martinussen MP, Romundstad PR, Hjelle S, Moster D, Vik T. Is vaginal breech delivery associated with higher risk for perinatal death and cerebral palsy compared with vaginal cephalic birth? Registry-based cohort study in Norway. BMJ Open. 2017 May 4;7(4):e014979. doi: 10.1136/bmjopen-2016-014979. PMID: 28473516; PMCID: PMC5566597.
  23. Hikmat O, Tzoulis C, Chong WK, Chentouf L, Klingenberg C, Fratter C, Carr LJ, Prabhakar P, Kumaraguru N, Gissen P, Cross JH, Jacques TS, Taanman JW, Bindoff LA, Rahman S. The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genet Med. 2017 Nov;19(11):1217-1225. doi: 10.1038/gim.2017.35. Epub 2017 Apr 27. Erratum in: Genet Med. 2019 Apr;21(4):1027. PMID: 28471437.
  24. Suntjens E, Dreschler WA, Hess-Erga J, Skrunes R, Wijburg FA, Linthorst GE, Tøndel C, Biegstraaten M. Hearing loss in children with Fabry disease. J Inherit Metab Dis. 2017 Sep;40(5):725-731. doi: 10.1007/s10545-017-0051-5. Epub 2017 May 31. PMID: 28567540; PMCID: PMC5579138.
  25. Johansson BB, Irgens HU, Molnes J, Sztromwasser P, Aukrust I, Juliusson PB, Søvik O, Levy S, Skrivarhaug T, Joner G, Molven A, Johansson S, Njølstad PR. Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. Diabetologia. 2017 Apr;60(4):625-635. doi: 10.1007/s00125-016-4167-1. Epub 2016 Dec 2. PMID: 27913849.
  26. Rafaelsen S, Johansson S, Ræder H, Bjerknes R. Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications. Eur J Endocrinol. 2016 Feb;174(2):125-36. doi: 10.1530/EJE-15-0515. Epub 2015 Nov 5. PMID: 26543054; PMCID: PMC4674593.
  27. Rosendahl K, Houge G, Gradek GA, Berland S, Fevang JM, Berentsen RD, Júlíusson PB. Spesialpoliklinikk for skjelettdysplasier [Special outpatient clinic for skeletal dysplasias]. Tidsskr Nor Laegeforen. 2015 Mar 10;135(5):419-20. Norwegian. doi: 10.4045/tidsskr.14.1022. PMID: 25761024.
  28. Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tøndel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak CE. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J Rare Dis. 2015 Mar 27;10:36. doi: 10.1186/s13023-015-0253-6. PMID: 25885911; PMCID: PMC4383065.
  29. Rafaelsen S, Johansson S, Ræder H, Bjerknes R. Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature. BMC Genet. 2014 Sep 24;15:98. doi: 10.1186/s12863-014-0098-3. PMID: 25249269; PMCID: PMC4181413.
  30. van der Tol L, Cassiman D, Houge G, Janssen MC, Lachmann RH, Linthorst GE, Ramaswami U, Sommer C, Tøndel C, West ML, Weidemann F, Wijburg FA, Svarstad E, Hollak CE, Biegstraaten M. Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up. JIMD Rep. 2014;17:83-90. doi: 10.1007/8904_2014_342. Epub 2014 Sep 16. PMID: 25224312; PMCID: PMC4241201.
  31. Frøisland DH, Graue M, Markestad T, Skrivarhaug T, Wentzel-Larsen T, Dahl-Jørgensen K. Health-related quality of life among Norwegian children and adolescents with type 1 diabetes on intensive insulin treatment: a population-based study. Acta Paediatr. 2013 Sep;102(9):889-95. doi: 10.1111/apa.12312. Epub 2013 Jul 16. PMID: 23738648.
  32. Laborie LB, Markestad TJ, Davidsen H, Brurås KR, Aukland SM, Bjørlykke JA, Reigstad H, Indrekvam K, Lehmann TG, Engesæter IØ, Engesæter LB, Rosendahl K. Selective ultrasound screening for developmental hip dysplasia: effect on management and late detected cases. A prospective survey during 1991-2006. Pediatr Radiol. 2014 Apr;44(4):410-24. doi: 10.1007/s00247-013-2838-3. Epub 2013 Dec 13. PMID: 24337789.
  33. Mjelle AB, Júlíusson PB, Aukland SM. Barn med krumme legger [Child with crooked legs]. Tidsskr Nor Laegeforen. 2014 Feb 25;134(4):422. Norwegian. doi: 10.4045/tidsskr.13.1183. PMID: 24569742.
  34. Linthorst GE, Burlina AP, Cecchi F, Cox TM, Fletcher JM, Feldt-Rasmussen U, Giugliani R, Hollak CE, Houge G, Hughes D, Kantola I, Lachmann R, Lopez M, Ortiz A, Parini R, Rivera A, Rolfs A, Ramaswami U, Svarstad E, Tøndel C, Tylki-Szymanska A, Vujkovac B, Waldek S, West M, Weidemann F, Mehta A. Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage. JIMD Rep. 2013;8:51-6. doi: 10.1007/8904_2012_160. Epub 2012 Jul 14. PMID: 23430520; PMCID: PMC3565660.
  35. Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, Bjerknes R. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. J Bone Miner Res. 2013 Jun;28(6):1378-85. doi: 10.1002/jbmr.1850. PMID: 23325605.
  36. Bertelsen AK, Tøndel C, Krohn J, Bull N, Aarseth J, Houge G, Mellgren SI, Vedeler CA. Small fibre neuropathy in Fabry disease. J Neurol. 2013 Mar;260(3):917-9. doi: 10.1007/s00415-012-6800-3. Epub 2012 Dec 21. PMID: 23263477.
  37. Frøisland DH, Markestad T, Wentzel-Larsen T, Skrivarhaug T, Dahl-Jørgensen K, Graue M. Reliability and validity of the Norwegian child and parent versions of the DISABKIDS Chronic Generic Module (DCGM-37) and Diabetes-Specific Module (DSM-10). Health Qual Life Outcomes. 2012 Feb 2;10:19. doi: 10.1186/1477-7525-10-19. PMID: 22300248; PMCID: PMC3296581.
  38. Brodwall KM, Júlíusson PB, Bjerknes R, Hovland R, Fiskerstrand T. Trikorhinofalangealt syndrom--klinisk presentasjon og genetikk [Trichorhinophalangeal syndrome--clinical presentation and genetics]. Tidsskr Nor Laegeforen. 2011 Aug 9;131(15):1420-3. Norwegian. doi: 10.4045/tidsskr.09.0551. PMID: 21844942.
  39. Houge G, Tøndel C, Kaarbøe O, Hirth A, Bostad L, Svarstad E. Fabry or not Fabry--a question of ascertainment. Eur J Hum Genet. 2011 Nov;19(11):1111. doi: 10.1038/ejhg.2011.87. Epub 2011 May 18. PMID: 21587323; PMCID: PMC3198147.
  40. Markestad T. Opplysninger om arvelig disposisjon ved søknad om helseforsikring [Information about hereditary disposition in connection with health insurance application]. Tidsskr Nor Laegeforen. 2011 May 20;131(9-10):975-7. Norwegian. doi: 10.4045/tidsskr.11.0531. PMID: 21607001.
  41. Brurås KR, Aukland SM, Markestad T, Sera F, Dezateux C, Rosendahl K. Newborns with sonographically dysplastic and potentially unstable hips: 6-year follow-up of an RCT. Pediatrics. 2011 Mar;127(3):e661-6. doi: 10.1542/peds.2010-2572. Epub 2011 Feb 14. PMID: 21321039.
  42. Guest JF, Jenssen T, Houge G, Aaseboe W, Tøndel C, Svarstad E. Modelling the resource implications of managing adults with Fabry disease in Norway favours home infusion. Eur J Clin Invest. 2010 Dec;40(12):1104-12. doi: 10.1111/j.1365-2362.2010.02363.x. Epub 2010 Sep 9. PMID: 21070219.
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  44. Rosendahl K, Dezateux C, Fosse KR, Aase H, Aukland SM, Reigstad H, Alsaker T, Moster D, Lie RT, Markestad T. Immediate treatment versus sonographic surveillance for mild hip dysplasia in newborns. Pediatrics. 2010 Jan;125(1):e9-16. doi: 10.1542/peds.2009-0357. Epub 2009 Dec 21. PMID: 20026501.
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  47. Raeder H, Shaw N, Netelenbos C, Bjerknes R. A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. Eur J Endocrinol. 2008 Dec;159 Suppl 1:S101-5. doi: 10.1530/EJE-08-0383. Epub 2008 Sep 5. PMID: 18775977.
  48. Downham E, Winterthun S, Nakkestad HL, Hirth A, Halvorsen T, Taylor RW, Bindoff LA. A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. Neuromuscul Disord. 2008 Apr;18(4):310-4. doi: 10.1016/j.nmd.2008.01.003. PMID: 18396045.
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