The natural history of classic galactosemia: lessons from the GalNet registry.
Orphanet J Rare Dis
; 14(1): 86, 2019 04 27.
Article
em En
| MEDLINE
| ID: mdl-31029175
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
UTP-Hexose-1-Fosfato Uridililtransferase
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Galactosemias
Tipo de estudo:
Etiology_studies
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Incidence_studies
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Observational_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article