期刊
ORPHANET JOURNAL OF RARE DISEASES
卷 14, 期 -, 页码 -出版社
BMC
DOI: 10.1186/s13023-019-1047-z
关键词
Registry; Natural history; Galactosemia; GALT deficiency; Galactosemia network
资金
- Netherlands Organisation for Scientific Research (NWO)
- Dutch Galactosemia Research foundation
- European Galactosemia Society
- Metakids grants
- Stofwisselkracht
- national Health Research Board (HRB) grant
- Batzebar foundation of the University Hospital Bern
- Spanish Galactosemia foundation
- Galaktosamie Schweiz
BackgroundClassic 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.MethodsObservational data derived from 15 countries and 32 centers including 509 patients were acquired between December 2014 and July 2018.ResultsMost 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.ConclusionThis study describes the natural history of classic galactosemia based on the hitherto largest data set.
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