Volume 6, Issue 3 (Scientific Journal of Hamadan University of Medical Sciences-Autumn 1999)                   Avicenna J Clin Med 1999, 6(3): 0-0 | Back to browse issues page

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Pour Jafari H. Report of Pedigree Pattern of a Family with Two Members Affected with Maple Syrup Urine Disease. Avicenna J Clin Med. 1999; 6 (3)
URL: http://sjh.umsha.ac.ir/article-1-1002-en.html
Abstract:   (1060 Views)

Present paper reports two cases of affected newborns with maple syrup

   urine  disease  (MSUD)   in  an  Iranian  rural  family,   and also explains the

   genetic   counseling    procedure.   The   parents   were   consanguineous

   (first cousin) and they two were carrier for the same mutant gene also. The

   type  of  disease  was   classic  form  and  clinically  sever.  Both  affected

   members died at 12 days and  48 days of birth respectively.

     Family  study  showed  that  the  condition  had   inherited  in  autosomal

   recessive    pattern.   The  couple   were  at  high  risk   for  having  another

   affected  progeny in the next pregnancy.

     
Type of Study: Case Report | Subject: Special

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