Finding the root of genetic disease in Amish communities

The story began at the Philadelphia children’s hospital late one night in spring 1989, when Dr. Morton found glutaric acid, the hallmark of the extremely rare inherited disease (GA1), in a urine sample from a boy who had what looked like cerebral palsy.

But the medical history was puzzling: 6-year-old Danny Lapp, who came from an Amish family, had been healthy until soon after his first birthday. After a stomach bug, the boy had suddenly become unable to move or speak. Such severe brain damage typically is obvious at birth.

The curious pediatrician knew about the higher frequency of certain genetic diseases among the Amish and the Mennonites. Would he find other cases?

Read the full, original story: An Advocate for the Amish at a Very Special Clinic

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