| Onderzoekslijn 76 |
 Pathophysiology of Galactosemia |
| Categorie |
Klinisch k. Erfelijke stofwisselingsziekten |
| Trefwoord 1 |
galactosemie |
| Trefwoord 2 |
lange termijn effecten |
| Omschrijving |
Classical galactosaemia is caused by a deficiency of the enzyme Galactose-1-phoshate:uridyl transferase. The disease causes both acute and long-term complications. The acute complications include liver failure and septicemia and occur in the first weeks of life and disappear when a galactose free diet is instated. On the long term, patients develop cognitive problems and have a strongly reduced fertility. Despite a life-long galactose-free diet, long term complications cannot be prevented. The long term complications are a great social burden for these patients. Little is known about the underlying mechanism of the cognitive and reproductive problems. |
| Onderzoeksleider laboratorium |
Dr. J.A.(Jaap) Bakker |
| Mede-onderzoeksleiders |
Dr. J. Bierau
Dr. M.E. Rubio-Gozalbo, kinderarts metabole ziekten MUMC
Dr. P.P. Menheere
Dr. W.K. Wodzig
|
| Instituut |
Maastricht Universitair Medisch Centrum Maastricht |
| Periode |
1-2000 - 1-2015 |
| Projecten |
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