Modern genetics answers age-old question on Garrod's fourth inborn error of metabolism
Monday, October 31, 2011 - 23:30
in Biology & Nature
Fifty years after participating in studies of pentosuria, an inherited disorder once mistaken for diabetes, 15 families again welcomed medical geneticists into their lives. Their willingness to have their DNA analyzed with genomics technologies has solved a 100-year mystery. The findings may help elucidate when and how human mutations appear and are carried over generations and with migration of humans. Pentosuria occurs almost exclusively in Ashkenazi Jews. The findings suggest it occurs in about 1 in 3,330 people of this ancestry.
