Publication

The natural history of classic galactosemia: lessons from the GalNet registry

Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I., Labrune, P., Landau, Y. E., Langendonk, J. G., Möslinger, D., Müller-Wieland, D., Murphy, E., Õunap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., de Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P. & Berry, G. T., 27-Apr-2019, In : Orphanet journal of rare diseases. 14, 1, 11 p., 86.

Research output: Contribution to journalArticleAcademicpeer-review

APA

Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., ... Berry, G. T. (2019). The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet journal of rare diseases, 14(1), [86]. https://doi.org/10.1186/s13023-019-1047-z

Author

Rubio-Gozalbo, M E ; Haskovic, M ; Bosch, A M ; Burnyte, B ; Coelho, A I ; Cassiman, D ; Couce, M L ; Dawson, C ; Demirbas, D ; Derks, T ; Eyskens, F ; Forga, M T ; Grunewald, S ; Häberle, J ; Hochuli, M ; Hubert, A ; Huidekoper, H H ; Janeiro, P ; Kotzka, J ; Knerr, I ; Labrune, P ; Landau, Y E ; Langendonk, J G ; Möslinger, D ; Müller-Wieland, D ; Murphy, E ; Õunap, K ; Ramadza, D ; Rivera, I A ; Scholl-Buergi, S ; Stepien, K M ; Thijs, A ; Tran, C ; Vara, R ; Visser, G ; Vos, R ; de Vries, M ; Waisbren, S E ; Welsink-Karssies, M M ; Wortmann, S B ; Gautschi, M ; Treacy, E P ; Berry, G T. / The natural history of classic galactosemia : lessons from the GalNet registry. In: Orphanet journal of rare diseases. 2019 ; Vol. 14, No. 1.

Harvard

Rubio-Gozalbo, ME, Haskovic, M, Bosch, AM, Burnyte, B, Coelho, AI, Cassiman, D, Couce, ML, Dawson, C, Demirbas, D, Derks, T, Eyskens, F, Forga, MT, Grunewald, S, Häberle, J, Hochuli, M, Hubert, A, Huidekoper, HH, Janeiro, P, Kotzka, J, Knerr, I, Labrune, P, Landau, YE, Langendonk, JG, Möslinger, D, Müller-Wieland, D, Murphy, E, Õunap, K, Ramadza, D, Rivera, IA, Scholl-Buergi, S, Stepien, KM, Thijs, A, Tran, C, Vara, R, Visser, G, Vos, R, de Vries, M, Waisbren, SE, Welsink-Karssies, MM, Wortmann, SB, Gautschi, M, Treacy, EP & Berry, GT 2019, 'The natural history of classic galactosemia: lessons from the GalNet registry' Orphanet journal of rare diseases, vol. 14, no. 1, 86. https://doi.org/10.1186/s13023-019-1047-z

Standard

The natural history of classic galactosemia : lessons from the GalNet registry. / Rubio-Gozalbo, M E; Haskovic, M; Bosch, A M; Burnyte, B; Coelho, A I; Cassiman, D; Couce, M L; Dawson, C; Demirbas, D; Derks, T; Eyskens, F; Forga, M T; Grunewald, S; Häberle, J; Hochuli, M; Hubert, A; Huidekoper, H H; Janeiro, P; Kotzka, J; Knerr, I; Labrune, P; Landau, Y E; Langendonk, J G; Möslinger, D; Müller-Wieland, D; Murphy, E; Õunap, K; Ramadza, D; Rivera, I A; Scholl-Buergi, S; Stepien, K M; Thijs, A; Tran, C; Vara, R; Visser, G; Vos, R; de Vries, M; Waisbren, S E; Welsink-Karssies, M M; Wortmann, S B; Gautschi, M; Treacy, E P; Berry, G T.

In: Orphanet journal of rare diseases, Vol. 14, No. 1, 86, 27.04.2019.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D et al. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet journal of rare diseases. 2019 Apr 27;14(1). 86. https://doi.org/10.1186/s13023-019-1047-z


BibTeX

@article{cec5aa5562144b558fc11667be0be520,
title = "The natural history of classic galactosemia: lessons from the GalNet registry",
abstract = "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.",
author = "Rubio-Gozalbo, {M E} and M Haskovic and Bosch, {A M} and B Burnyte and Coelho, {A I} and D Cassiman and Couce, {M L} and C Dawson and D Demirbas and T Derks and F Eyskens and Forga, {M T} and S Grunewald and J H{\"a}berle and M Hochuli and A Hubert and Huidekoper, {H H} and P Janeiro and J Kotzka and I Knerr and P Labrune and Landau, {Y E} and Langendonk, {J G} and D M{\"o}slinger and D M{\"u}ller-Wieland and E Murphy and K {\~O}unap and D Ramadza and Rivera, {I A} and S Scholl-Buergi and Stepien, {K M} and A Thijs and C Tran and R Vara and G Visser and R Vos and {de Vries}, M and Waisbren, {S E} and Welsink-Karssies, {M M} and Wortmann, {S B} and M Gautschi and Treacy, {E P} and Berry, {G T}",
year = "2019",
month = "4",
day = "27",
doi = "10.1186/s13023-019-1047-z",
language = "English",
volume = "14",
journal = "Orphanet journal of rare diseases",
issn = "1750-1172",
publisher = "BMC",
number = "1",

}

RIS

TY - JOUR

T1 - The natural history of classic galactosemia

T2 - lessons from the GalNet registry

AU - Rubio-Gozalbo, M E

AU - Haskovic, M

AU - Bosch, A M

AU - Burnyte, B

AU - Coelho, A I

AU - Cassiman, D

AU - Couce, M L

AU - Dawson, C

AU - Demirbas, D

AU - Derks, T

AU - Eyskens, F

AU - Forga, M T

AU - Grunewald, S

AU - Häberle, J

AU - Hochuli, M

AU - Hubert, A

AU - Huidekoper, H H

AU - Janeiro, P

AU - Kotzka, J

AU - Knerr, I

AU - Labrune, P

AU - Landau, Y E

AU - Langendonk, J G

AU - Möslinger, D

AU - Müller-Wieland, D

AU - Murphy, E

AU - Õunap, K

AU - Ramadza, D

AU - Rivera, I A

AU - Scholl-Buergi, S

AU - Stepien, K M

AU - Thijs, A

AU - Tran, C

AU - Vara, R

AU - Visser, G

AU - Vos, R

AU - de Vries, M

AU - Waisbren, S E

AU - Welsink-Karssies, M M

AU - Wortmann, S B

AU - Gautschi, M

AU - Treacy, E P

AU - Berry, G T

PY - 2019/4/27

Y1 - 2019/4/27

N2 - 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.

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.

U2 - 10.1186/s13023-019-1047-z

DO - 10.1186/s13023-019-1047-z

M3 - Article

VL - 14

JO - Orphanet journal of rare diseases

JF - Orphanet journal of rare diseases

SN - 1750-1172

IS - 1

M1 - 86

ER -

ID: 81751801