Legislative Press Release
The following statement was released by the sponsor of SB537 - Dr
Richard Koch.
On September the 30th, 1998, Governor Pete Wilson signed Senate Bill 537 authorizing the
expansion of the screening of newborns in California from the present four to as many as
16 different metabolic disorders that cause developmental disabilities and/or neonatal
mortality.
This expansion is now possible because of the development of new technology that has been
made available by the pioneering work of scientists at Duke University in North Carolina
and adapted to newborn screening by Dr., Edwin Naylor in Pittsburg, PA. This work has been
developed during the last decade and facilitates performing simultaneous analyses of
various body chemicals on one sample of blood collected on the present Guthrie filter
paper that is obtained today on each newborn in California.
The development of this cost effective “state of the art” analytical method will
allow for the diagnosis of multiple metabolic disorders including phenyldetonuria, maple
syrup urine disease, homocystinuria, medium chain acyl dehydrogenase deficiency, as well
as other disorders of amino, organic, and fatty acid metabolism. Now, these disorders can
be treated during the neonatal period permitting normal childhood development.
In the Pittsburg laboratory over 500,000 specimens have now been analyzed and 130 infants
diagnosed with clinically significant disease. Fortunately these disorders are now
treatable as well.
The State legislature, the Governor, and the State Health Department are to be
congratulated for moving forward in this important advancement to improve the health of
these affected children by the prevention of mental retardation and associated
developmental disabilities.
Richard Koch, M.D., Los Angeles Children’s Hospital
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November / December 1998
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