Utah offering more tests for newborns

Marcus Burnett seemed healthy at birth but started slipping when he was about 10 days old. He lost weight and was listless. He didn't want to eat, seemed too tired even to cry. He slept all the time and occasionally threw up.

A series of tests at Primary Children's Medical Center provided an answer to his worried mom, Cindy. He had congenital adrenal hyperplasia, a defect in his adrenal-gland hormone synthesis process. He couldn't retain salt, his potassium was unbelievably high and the result could be a heart that simply stops. He was also unable to convert his cholesterol the way it was supposed to.

Treatment is simple; ignoring it would be devastating. The boy, now a healthy 5 years old, takes two synthetic hormones three times a day. He eats a normal diet and lives a normal little-boy life, his mother said.

In some states, a simple $3 test would have found the disorder during his in-hospital newborn screening. But that's not one of the required newborn tests in Utah.

The March of Dimes recommends nine metabolic tests as part of the newborn screening. Utah requires four of them, as well as a hearing exam. But though the national organization's recent report on newborn screening was critical of Utah, Patricia McKenna-Clark, government affairs for the local chapter, says a great deal of progress is being made. The Utah Department of Health may soon add other tests, based on the recommendation of a health department genetics advisory subcommittee. And there's no question that there's a spirit of collaboration moving efforts forward, she said. "We're making progress and that's a success."

An ongoing pilot project at University Hospital offers expanded metabolic screening of newborns. It's a joint effort of the U., the Health Department, ARUP laboratories, March of Dimes and others. The study's not trying to vet the efficacy of the tests, well proven, but rather how such expanded testing might be introduced on a large scale in a cost-effective and efficient way, said Dr. Nicola Longo, a professor of pediatrics at the U. and director of metabolic services there.

The pilot uses tandem mass spectrometry to run an MCAD (medium-chain acyl-coa dehydrogenase) test to look at about 25 different metabolic conditions at once. The department's Genetic Advisory Committee newborn screening subcommittee has recommended the MCAD test be added to the newborn screening, along with tests for biotinidase deficiency and Marcus' condition, congenital adrenal hyperplasia. The state already tests for phenylketonuria, galactosemia, congenital hypothyroidism (low thyroid) and hemoglobin diseases like sickle cell. The March of Dimes also recommends screening for Maple Syrup Urine Disease and homocystinuria.