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Mucopolysaccharidosis (2348)
Mucopolysaccharidosisnew
вид:
pediatr
відправник:
delwa
2007-06-05 13:46
Перинатальна група
The 10-th year boy suffers mucopolysaccharidosis. Investigation in medical – centre (Kiev) reveals lack the enzyme and iduronate – 2 - sulfatase (0,001) – Hunter syndrome.  
What drugs may be effective?  
It is the possibility to birth health children in this family (the age of mother is 29)?  
In what clinic the full examination of the parents is possible?  
ґаларея:
зауваження
blunier
2007-10-12 18:17
Dear Dmytro  
 
please find here below a translated version of a reply to your case from a pediatrician from Germany (Dr. M. Hufnagel.  
 
Quote---------------------------------------------------------  
 
There is a enzyme replacement therapy for MPS Type II (Hunter's disease). However the medication is not yet available on the market according to my knowledge.  
 
There has been a publication of a Phase II/III Study, see:  
(http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermT  
oSearch=17185020&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_Resu  
ltsPanel.Pubmed_RVAbstractPlus).  
 
May be there is the possibility that the boy can participate in a study. I would recommend the colleagues in the Ukraine to contact the correspondence author of the study (J Muenzer: muenzer@med.unc.edu) or to contact Prof. Beck of the University Children's Hospital of Mainz (Germany). He is the German / European Mukopolysaccharidose-"Guru". He should be interested to see the patient and to do a clinical examination, also in order to confirm the diagnosis, as there is quite a number of different MPS-forms. Write him to:  
 
Prof. Dr. Michael Beck  
Villa Metabolica  
Universitäts-Kinderklinik Mainz  
Langenbeckstr. 2  
55131 Mainz  
 
Tel.: +49-6131-17-5754  
Fax: +49-6131-17-5762  
Email: beck@kinder.klinik.uni-mainz.de  
Weblink: http://www.kinder.klinik.uni-mainz.de/AG_Stoffwechsel.67.0.html  
 
unquote--------------------------------------------------------
delwa
2007-10-26 11:26
Last modified: 2007-06-05 13:46:58