RT Journal Article
T1 The natural history of classic galactosemia: lessons from the GalNet registry
A1 Rubio-Gozalbo, M. E.
A1 Haskovic, M.
A1 Bosch, A. M.
A1 Burnyte, B.
A1 Coelho, A. I.
A1 Cassiman, D.
A1 Couce Pico, María Luz
A1 Dawson, C.
A1 Demirbas, D.
A1 Derks, T.
A1 Eyskens, F.
A1 Forga, M. T.
A1 Grunewald, S.
A1 Häberle, J.
A1 Hochuli, M.
A1 Hubert, A.
A1 Huidekoper, H. H.
A1 Janeiro, P.
A1 Kotzka, J.
A1 Knerr, I.
A1 Labrune, P.
A1 Landau, Y. E.
A1 Langendonk, J. G.
A1 Möslinger, D.
A1 Müller-Wieland, D.
A1 Murphy, E.
A1 Õunap, K.
A1 Ramadza, D.
A1 Rivera, I. A.
A1 Scholl-Buergi, S.
A1 Stepien, K. M.
A1 Thijs, A.
A1 Tran, C.
A1 Vara, R.
A1 Visser, G.
A1 Vos, R.
A1 De Vries, M.
A1 Waisbren, S. E.
A1 Welsink-Karssies, M. M.
A1 Wortmann, S. B.
A1 Gautschi, M.
A1 Treacy, E. P.
A1 Berry, G. T.
K1 Registry
K1 Natural history
K1 Galactosemia
K1 GALT deficiency
K1 Galactosemia network
AB Background: Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to treat the neonatal life-threatening manifestations and has been the cornerstone of treatment for this severe disease. However, burdensome complications occur despite a lifelong diet. For rare diseases, a patient disease specific registry is fundamental to monitor the lifespan pathology and to evaluate the safety and efficacy of potential therapies. In 2014, the international Galactosemias Network (GalNet) developed a web-based patient registry for this disease, the GalNet Registry. The aim was to delineate the natural history of classic galactosemia based on a large dataset of patients.Methods: Observational data derived from 15 countries and 32 centers including 509 patients were acquired between December 2014 and July 2018.Results: Most affected patients experienced neonatal manifestations (79.8%) and despite following a diet developed brain impairments (85.0%), primary ovarian insufficiency (79.7%) and a diminished bone mineral density (26.5%). Newborn screening, age at onset of dietary treatment, strictness of the galactose-restricted diet, p.Gln188Arg mutation and GALT enzyme activity influenced the clinical picture. Detection by newborn screening and commencement of diet in the first week of life were associated with a more favorable outcome. A homozygous p.Gln188Arg mutation, GALT enzyme activity of ≤ 1% and strict galactose restriction were associated with a less favorable outcome. Conclusion: This study describes the natural history of classic galactosemia based on the hitherto largest data set.
PB BMC
YR 2019
FD 2019
LK http://hdl.handle.net/10347/21208
UL http://hdl.handle.net/10347/21208
LA eng
NO Rubio-Gozalbo, M.E., Haskovic, M., Bosch, A.M. et al. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet J Rare Dis 14, 86 (2019). https://doi.org/10.1186/s13023-019-1047-z
NO The initial GalNet meeting to discuss the registry was financially supported by agrant to M.E.R-G. from The Netherlands Organisation for Scientific Research(NWO). Development, implementation and maintenance were supported bygrants from the Dutch Galactosemia Research foundation, EuropeanGalactosemia Society and Metakids grants to M.E. R-G. Data entry for6 of the 7 participating Dutch centers was done by the coordinatingcenter and was financially supported by a Stofwisselkracht grant toM.E.R-G. in 2016. Analysis and interpretation of data was financially supportedby Stofwisselkracht and Metakids grants to M.E.R-G. (2017 and 2018). The Irishdata entry was supported by a national Health Research Board (HRB) grant to E.P.T. The British inherited Metabolic Disease Group supported access to theregistry in the UK. M.G. was supported by a grant from the Batzebär foundation ofthe University Hospital Bern, and one from the Galaktosämie Schweiz patientorganization for the set-up of the registry and data entry for all patientsof Switzerland. The Spanish Galactosemia foundation financially supported dataentry for Spanish patients.
DS Minerva
RD 23 abr 2026