The Association "Vaincre Maladies Lysosomales Belgique" is official since publication in the Moniteur Belge 6/09/2010. This site was built to create a relay between the French association " To overcome the Lysosomales Diseases” and the Belgian patients.
Photo de France 3 émission "au chevet des maladies rares"
look video http://www.lesecransdusocial.gouv.fr/spip.php?article258 Look video http://www.dailymotion.com/video/x52fkf_hopitaux-dexcellence-extrait-maladi_news
If you type them on google, you’ll find several sites explaining those diseases in detail.
The three following testimony relate to the disease of Scheie (the attenuated form of the mucopolysaccharidose type 1): it’s a disease of lysosomale hereditary overload due to a deficit of an enzyme called alpha-L-iduronidase.
The transmission works on a autosomic recessive level, meaning that both parents of the patient are healthy carriers. Both parents have to transmit each one a weakening gene to their child to make the disease express herself.The patient does not produce or not sufficiently the enzyme in its body to function correctly. This disease leading to an overload of lysozomes is due to an accumulation of two mucopolysaccharides or glycosaminoglycanes GAG: the dermatane sulphate and héparane sulphate in our system. These GAG accumulate and are bound to affect several organs at the same time. The glycosaminoglycanes are also found in the urines.
The symptoms vary from one patient to another. The severe forms are secondary with the complete absence of the enzyme alpha-L-iduronidase in vivo. The illness starts very precociously (>1 year) and comprises a stagnation and then a psychomotor regression. In its moderated forms, the intelligence of the patient is normal. The other symptoms of the disease (cardiac, pulmonary, ostéo-articular) evolve slowly. The incidence of the disease is estimated at 1/100.000 to 1/200.000.
You can obtain information in Belgium by e-mail email@example.com.
For France, dial 00.33. (0) 184.108.40.206 .30
or writing to firstname.lastname@example.org
Copyright: Warning, all the texts and photographs are the intellectual property of the authors (S.Brabant, M.Nelis-Dupont, Dr.N.Guffon). No exploitation (commercial or not commercial), of the images or account, can be made without the agreement of the project leader. Thank you.