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Doctors ordered a vegan diet -- only fruits, vegetables and specially processed pastas -- with no more than 6 grams of protein daily. John drinks a formula containing creatine and other missing nutrients.
"Within days, we started to see him getting stronger," says Klor, of Pine Knoll Shores, N.C.
Today at 19 months, John runs and climbs stairs. He's starting to make sounds like "ma" but speech is coming more slowly; doctors are optimistic but make Klor no promises.
Only 40 cases of GAMT deficiency have been reported in medical journals, but Duke specialists say creatine disorders probably are underdiagnosed, with symptoms similar to other metabolic diseases. GAMT deficiency may eventually be a candidate for newborn screening, although it's not yet clear if the troublesome substances will show up in blood at birth or if a different test will be required, cautions medical geneticist David Millington. His lab is studying that now.
The work is the latest in a push to expand newborn screening:
Within two years, Missouri and Illinois are to begin screening for five of the roughly 40 "lysosomal storage" disorders, where the microscopic recycling bins inside cells fail, allowing toxic buildup that harms different body parts. They include Pompe disease
-- the subject of a soon-to-be-released Harrison Ford movie -- and Fabry, Gaucher, Niemann-Pick and Krabbe diseases.
Currently, New York is the only state to test newborns for a lysosomal disorder, the Krabbe disease that killed the son of former Buffalo Bills quarterback Jim Kelly. The federal government's advisers are considering adding lysosomal disorders to the national screening list, despite few treatments.
Also under consideration for the national list is the bubble boy disease, formally known as SCID, or "severe combined immunodeficiency disease." Wisconsin is screening newborns in a closely watched experiment to see if SCID and related immune-crippling diseases can be caught in time for babies to get life-extending treatment.
Copyright 2010 The Associated Press. All rights reserved. This material may not be published, broadcast, rewritten or redistributed.
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