He said the department would conduct about 30 more tests for metabolic and genetic disorders starting Jan. 1, 2002. The department is delaying requiring the new tests until it receives delivery of the machines necessary to test every newborn infant in the state. The National Urea Cycle Disorders Foundation has recently joined hands with other support groups dedicated to making newborn screening a reality. Together, we will initiate and support legislation at the state level requiring comprehensive newborn screening for metabolic disorders, including urea cycle disorders, and lobby insurance carriers to pay for this inexpensive, but life-saving test. Children with urea cycle disorders often become catastrophically ill within a few days after birth.
Doctors struggle to find the cause, wasting precious time pondering possible diagnoses.
Fifty percent of these children die before they are diagnosed. The ones that survive often have irreversible brain damage. This entire scenario could be avoided with a simple, affordable test, ultimately saving children's lives as well as healthcare dollars. We are convinced that many children who have significant neurological impairment as a result of neonatal and infant hyperammonemic crises could have been saved from this disability through early detection with newborn screening testing. With the advent of technology known as Tandem Mass Spectrometry, screening for the urea cycle disorders is possible.