DNP 810 Complex Inheritance Health Issue

DNP 810 Complex Inheritance Health Issue

Identify a complex inheritance health issue you encountered in your clinical practice or personal life.

DNP 810 Complex Inheritance Health Issue

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Carnitine palmitoyltransferase 1A deficiency is a complex inheritance health issue seen frequently in the Alaska Native population (CPT1A). This is a rare autosomal recessive condition that affects the carnitine cycle. Unfortunately, both parents must carry the genetic mutation in order for it to be passed on to their children. The condition usually manifests itself within the first 24 months of life, with hypoglycemia, hypoketosis, seizures, and extreme fatigue. CPT1A is an enzyme that transports long-chain fatty acids into the mitochondria of the cell. This is the process by which fat is converted into energy. Long-chain fatty acids cannot connect to carnitine and thus cannot be transported into the mitochondria when CPT1A is mutated. Gan and colleagues (2021).

DNP 810 Complex Inheritance Health Issue

DNP 810 Complex Inheritance Health Issue

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Also Read: DNP 810 Variability of Pharmacologic Responses in Some Patients

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