RALEIGH – North Carolina has expanded its statewide newborn screening panel to include infantile Krabbe disease and guanidinoacetate methyltransferase deficiency, commonly called GAMT deficiency.
The state Department of Health and Human Services announced the addition Monday. The change means babies born in North Carolina will be screened for the two rare disorders as part of the state program that tests blood collected shortly after birth.
Before a newborn leaves the hospital, health workers collect a few drops of blood through a heel prick and send the sample to the State Laboratory of Public Health. Laboratory staff screen the sample for serious conditions that may not be apparent at birth and connect babies with follow-up services when a result indicates increased risk.
Nearly 120,000 babies are born in North Carolina each year, according to NCDHHS. The department said newborn screening identifies more than 250 babies annually with metabolic, endocrine, hemoglobin and other disorders.
Infantile Krabbe disease affects the nervous system and can progress rapidly. The National Library of Medicine says the infantile form usually begins before age 1 and can cause muscle weakness, feeding difficulties, developmental delays, vision loss and seizures.
GAMT deficiency is an inherited metabolic disorder that affects creatine production. Federal newborn-screening guidance says the condition most seriously affects the brain and muscles. Early treatment is important because the disorder can cause severe neurological problems when it is not identified promptly.
The expansion is a statewide public-health policy action because it changes the conditions included in the state laboratory’s screening panel for newborns across North Carolina. NCDHHS said GAMT deficiency and infantile Krabbe disease bring the total to seven conditions added to the panel during the past six years.
The announcement also coincides with the 60th anniversary of North Carolina’s Newborn Screening Program. The department did not announce a separate fee or eligibility requirement for the two new screenings.
Sources
- NCDHHS: statewide newborn screening expansion
- HRSA: GAMT deficiency screening information
- National Library of Medicine: Krabbe disease information
Photo: U.S. Air Force/Staff Sgt. Eric T. Sheler, public domain. Newborn heel-prick blood collection on Dec. 12, 2007. Cropped and resized.
Editor’s Note: This article was drafted with the assistance of artificial intelligence and was reviewed and fact-checked by a member of the NC Political News editorial team before publication.