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CPT-1A ARCTIC VARIANT PROJECT

Nearly 25% of Alaska Native infants are homozygous for a variant in the carnitine palmitoyl transferase deficiency, type 1A (CPT-1A) gene. This variant is called the CPT-1A arctic variant. Studies have shown that homozygosity for the arctic variant is linked to higher rates of diseases and a higher chance of death in the first year of life. Based on similar conditions, early detection of affected infants by newborn screening should improve the lives of these infants. Teaching parents and providers early on about how to prevent symptoms should help avoid disease and death. Although newborn screening can identify some infants who are homozygous for the arctic variant, screening misses most of the babies born with this variant. By improving the way newborn screening test results are analyzed, detection rates can potentially be improved.

The main goal of this project is to evaluate the health effects of homozygosity for the CPT-1A arctic variant on the health of Alaska Native children. The second goal of this project is to determine whether newborn screening will improve the health of Alaska Native infants who are homozygous for the arctic variant.

This project is being done in collaboration with the Alaskan Native Health organizations, Alaskan Native tribal groups, and the Alaska Department of Health.

Collaborative Lead: Dave Koeller
Staff Lead: Jennifer Boomsma

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