Inborn Errors of Metabolism

Dr. Greene’s take on inborn errors of metabolism…

Some of my most heart-rending experiences as a physician and as a friend have been watching the devastation caused by inborn errors of metabolism. This group of 30 individually rare disorders can cause mental retardation, coma, or death. Many of these disorders can be treated with something as simple as a dietary change — if you know which disease a child has soon enough. Previously, testing for each of these conditions was too complicated and expensive to be practical. Now there is a screening test that costs only $19-$25, and can spare families the ravages of undiagnosed inborn errors of metabolism.

The states of Massachusetts and North Carolina already require that parents be offered the option of the new tests. I encourage parents living elsewhere to arrange for testing themselves. If the tests are not available locally, ask your doctor to call Neo Gen Screening (412-341-8658) or Baylor University Medical Center (800-422-9567). The test simply involves taking a little extra blood at the time of the routine heel-stick for newborn screening.

You also might want to visit a poignant website called the Save Babies Through Screening Foundation. The creators are parents of a baby who died of an inborn error of metabolism six days after birth.