Answer 2 for DNP 810 Choose one disorder of malnutrition that is found in your clinical setting or community

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Carnitine Palmitoyltransferase 1A (CPT1A) deficiency is a metabolic disorder that affects the long-chain fatty acid oxidation process. A mutation in the CPT1A gene causes this autosomal recessive disorder to affect the production of the enzyme, disrupting the cycle of transitioning fat into energy within the mitochondria (Gan et al., 2021). Although this is a rare disorder in much of the world, it is very prevalent in the state of Alaska. One of the most significant resulting issues from this is malnutrition.

  • Genetics – CPT1A is an autosomal recessive condition. Both parents must carry the gene, whether affected or unaffected by the disorder.
  • Environmental influences – No environmental factors influence this disorder.
  • Prevalence – This disorder is found in approximately 80% of the Northern and Western Alaska villages (Janvekar et al., 2019). The deficiency is considered rare throughout the rest of the world.
  • Testing – Testing for CPT1A deficiency can be done through blood or skin sample tests. In Alaska, newborn screening is mandatory due to its high prevalence. Regular liver function testing should be completed during a patient’s lifetime.
  • Treatment – Diet is the primary treatment. Patients must avoid fats and increase carbohydrates. Small frequent meals are suggested to prevent drops in blood sugar. There are no approved medications at this time.
  • Prognosis – The prognosis can vary based on a patient’s compliance with diet and testing. Those individuals who maintain a strict diet and monitor blood sugars and liver function can live a relatively long and healthy life. Those who are not compliant have an extremely poor prognosis.

The residents of the state of Alaska have a cultural diet rich in foods that are not good for someone with CPT1A deficiency. Malnutrition occurs in anywhere from 18%-75% of all cases of this disorder. (Janvekar et al., 2019)

References

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

Janvekar, S., Pol, R., Vanaki, R., & Yelmali, B. (2019). Carnitine palmitoyl transferase 1A deficiency: A disease in disguise – a case report. Medica Innovatica, 8(2), 38–40. https://www.medicainnovatica.org/Medicajan2020/IndartMed%20InnDec%202019/Article%209.pdf

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