CONTACT: C. LINDON LARSON
Iowa City IA 52242
(319) 335-9569; fax (319) 384-4638
Release: Sept. 20, 2001
NOTE TO EDITORS: This release was prepared by the Iowa Department of Public
Health. To contact the IDPH, call Tom Carney at (515) 281-7174.
Iowa expands newborn screening
IOWA CITY, Iowa -- Chris and Alicia Zwirlein of Waterloo were thrilled last
November with the birth of their first child, Zachariah. They had contrary
emotions when they learned through newborn screening results and confirmatory
testing that Zachariah has a rare genetic disorder called MCAD deficiency.
Nonetheless, the screening may have saved Zachariah's life, and the Zwirleins
are grateful for the counseling, education and successful treatment Zachariah
subsequently received through the Iowa Metabolic Genetics Clinic at the University
MCADD, or medium chain acyl-CoA dehydrogenase deficiency, prevents newborns
who have used up their sugar reserves from completely breaking down fats to
derive energy from them. This places newborns at risk for hypoglycemia, which
can cause lethargy, seizures and even brain damage and death.
The Iowa Neonatal Metabolic Screening Program detected Zachariah's problem
during a pilot newborn-screening study to detect MCADD. During pilot studies,
consultants follow up on any unusual results and do confirmatory testing if
The Iowa State Board of Health last week approved the addition of MCADD
to the disorders routinely screened by the program. Iowa screens all newborns
for about a half dozen other disorders, as well, as mandated over a decade
ago by the Iowa Legislature. The screening is done in the Des Moines laboratory
of the University Hygienic Laboratory. The Hemoglobinopathy Screening and
Comprehensive Care Program, the Metabolic Management Clinic and the Endocrine
Clinic of the Department of Pediatrics at University of Iowa Hospitals and
Clinics provide follow-up and education. The Iowa Department of Public Health
oversees the program.
Also last week, the Iowa Department of Public Health approved a pilot study
to use tandem mass spectrometry to expand the number of disorders screened.
That technology, used to screen for MCADD, can potentially screen for up to
30 inheritable metabolic disorders. Iowa is one of the first five states to
"These disorders may be rare," said state health department director
Stephen Gleason, D.O., "but they can devastate the families involved.
I'm proud that Iowa is showing its leadership by using its world-class scientists
and premier facilities and institutions to screen all Iowa newborns."
Among those world-class scientists on the university's genetics team are
Val Sheffield, Ph.D., M.D., professor and director of the genetics division
in the UI department of pediatrics. Mary J.R. Gilchrist, Ph.D., director of
the University Hygienic Laboratory, is president of the Association of Public
Zachariah, meanwhile, is on a special low-fat, high-carbohydrate diet as
well as medication, and his prognosis is good.
"He's doing great," said his mother, Alicia.
University of Iowa Health Care describes the partnership between
the UI College of Medicine and the UI Hospitals and Clinics and the patient
care, medical education and research programs and services they provide.