AU - Pour Jafari, Hamid TI - Report of Pedigree Pattern of a Family with Two Members Affected with Maple Syrup Urine Disease PT - JOURNAL ARTICLE TA - umsha JN - umsha VO - 6 VI - 3 IP - 3 4099 - http://sjh.umsha.ac.ir/article-1-1002-en.html 4100 - http://sjh.umsha.ac.ir/article-1-1002-en. SO - umsha 3 ABĀ  - 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. CP - IRAN IN - LG - eng PB - umsha PG - 0 PT - Case Report YR - 1999