Sarah Evans, MSN'20 and DNP student, published "Pediatric Case Report: CPT1A Arctic Variant" in the Journal of Pediatric Health Care. 

Introduction

Once thought to be a rare finding, carnitine palmitoyltransferase type 1A (CPT1A) is present in about 80% of western and northern Alaskan villages and is identified as a naturally occurring disruption of the fatty acid oxidation (FAO) process. Located on the outer membranes of mitochondria, CPT1A genes code for fat-metabolizing enzymes that provide energy to hepatic cells (Genetics Home Reference, 2020). This is achieved when CPT1A genes bind carnitine to long-chain fatty acids to transport them across mitochondrial membranes for β-oxidation (Skotte et al., 2017). The FAO process is vital to maintaining homeostasis by allowing continued adenosine triphosphate production for cellular energy when glucose stores are low (Briant et al., 2018).

Further classified to distinguish a regional pattern, the Arctic Variant of CPT1A refers to the native populations in subpolar coastal territories (Koeller et al., 2017). As of 2003, the State of Alaska has included CPT1A Arctic Variant to the newborn screening panel; a crucial step to improve health outcomes of native children, as genetic homozygosity may be associated with the population's high infant mortality rates (Gessner, Wood, Johnson, Richards, & Koeller, 2016; Jardine & Alaska Primary Care Track Pediatric, 2016). In addition, many individuals diagnosed with FAO disorders are at increased risk of severe comorbidity across all organ systems, including cardiomyopathy, rhabdomyolysis, seizures, and sudden death (Merritt, MacLeod, Jurecka, & Hainline, 2020). Early identification of FAO disorders is an important part of ensuring health across the life span through preventing complications at all stages of growth and development.

Citation

Sarah E. Evans, Pediatric Case Report: CPT1A Arctic Variant, Journal of Pediatric Health Care, Volume 35, Issue 2, 2021, Pages 231-234, ISSN 0891-5245, https://doi.org/10.1016/j.pedhc.2020.10.008.
(https://www.sciencedirect.com/science/article/pii/S0891524520302777)