A complex inheritance health issue seen quite often in the Alaska Native population is Carnitine palmitoyltransferase 1A deficiency (CPT1A). This genetic mutation is a rare autosomal recessive condition affecting the carnitine cycle. Both parents must carry the genetic mutation to pass on to their children; unfortunately, we often see this. Presentation is typically within the first 24 months after birth and presents with hypoglycemia, hypoketosis, seizures, and extreme fatigue. CPT1A is an enzyme responsible for transporting long-chain fatty acids into the cell’s mitochondria. This is the oxidization process that turns fat into energy. With the mutation of the CPT1A, the long-chain fatty acids cannot connect to the carnitine and thereby cannot be transported into the mitochondria. (Gan et al., 2021)
For being such a rare issue in so much of the world, CPT1A deficiency is found in 80% of the Northern and Western Alaska villages. With such a large population affected, it is essential to educate on diet and management of the disease. This is due to fish being a considerable part of the dietary intake in the villages, which is a significant source of long-chain fatty acids. Individuals with the disease need to eat more often and increase their carbohydrate intake. Unfortunately, carbohydrates are not a common source of food in the remote population. (Janvekar et al., 2019)
This disease process has been a very interesting one to work with as it mimics hypoglycemia at first assessment. Parents tend to be aware of the condition but are poorly educated on the daily management of it. Typical approaches to teaching do not seem to be effective, whereas detailed step-by-step instructions and information are better understood. The most important part of the approach to working with the patient and family is the inclusion of cultural needs. As noted earlier, fish is a main staple of the Alaska village. It is a part of the culture and something that will not change. Management must include how to limit its intake and what other cultural dietary needs can be increased.
Gan, Y., Yu, F., & Fang, H. (2021). Novel mutation in carnitine palmitoyltransferase 1a detected through newborn screening for a presymptomatic case in china: A case report. Italian Journal of Pediatrics, 47(1). https://doi.org/10.1186/s13052-021-01094-5
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