Inborn Errors of Metabolism

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.

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Dr. Alan Greene

Dr. Greene is the founder of DrGreene.com (cited by the AMA as “the pioneer physician Web site”), a practicing pediatrician, father of four, & author of Raising Baby Green & Feeding Baby Green. He appears frequently in the media including such venues as the The New York Times, the TODAY Show, Good Morning America, & the Dr. Oz Show.

  1. Alan Greene

    Hi Sasithiranan. I appreciate your concern for this little girl. The best help for her may be for her doctor (or the parents) to get in touch with a major medical center that regularly treats children with inborn errors of metabolism. Her specific condition may or may not have a specific treatment, but either way there may be things that can make her life better than it would be otherwise.

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  2. Sasithiranan C. Giusti

    Hi., I had read news about baby girls 6 months old in Thailand has Inborn Error Metabolism(IEM). She is first and only one who has this disease. The doctor has no experience about this disease,so no treatment for her yet. What we can do to help out?

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