گزارش الگوی شجره نامه خانواده ای با دو عضو مبتلا به بیماری ادرار شربت افرایی

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.