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

Details

Serval ID
serval:BIB_BBDB95ECC854
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
The natural history of classic galactosemia: lessons from the GalNet registry.
Journal
Orphanet journal of rare diseases
Author(s)
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.
ISSN
1750-1172 (Electronic)
ISSN-L
1750-1172
Publication state
Published
Issued date
27/04/2019
Peer-reviewed
Oui
Volume
14
Number
1
Pages
86
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Abstract
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.
Observational data derived from 15 countries and 32 centers including 509 patients were acquired between December 2014 and July 2018.
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.
This study describes the natural history of classic galactosemia based on the hitherto largest data set.
Keywords
Adolescent, Adult, Cohort Studies, Female, Galactosemias/genetics, Galactosemias/pathology, Homozygote, Humans, Infant, Newborn, Male, Mutation/genetics, Neonatal Screening, Registries, Retrospective Studies, UTP-Hexose-1-Phosphate Uridylyltransferase/genetics, Young Adult, GALT deficiency, Galactosemia, Galactosemia network, Natural history, Registry
Pubmed
Web of science
Open Access
Yes
Create date
13/05/2019 8:35
Last modification date
16/12/2019 7:19
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