CPT1A Arctic Variant

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Carntitine Palmitoyl Transferase, Type 1A Arctic Variant (CPT1A Acrtic Variant)
(Adapted from Pocket Guide to Alaska Native Pediatric Diagnoses)
Pathophysiology: Fatty acid oxidation disorder: difficulty breaking down fatty acids from both food and body fat.
Inheritance: Autosomal recessive

  • Considered to be the wild-type (normal) gene in the Yu'pik population in Alaska (50% are homozygous for the Arctic Variant)
  • Total incidence per year in newborns in Alaska =7%
  • Found at a higher rate in all circumpolar coastline populations including Inuit populations in Canada and Greenland and indigenous populations of northern Siberia
  • General population = <1/1,000,000 (general CPT1A deficiency)


  • Most children never have symptoms, but if they do, symptoms are more likely to be seen in children <2 years old
  • Initial signs of metabolic crisis: sleepiness, irritability, poor appetite
  • Metabolic crisis: Hypoglycemia (hypoketotic), seizures due to hypoglycemia, Death (especially associated with a concomitant infectious disease, although rare)

Diagnosis: Alaska Newborn Screen (processed in Oregon) - added to screen in the fall of 2003.

  • Avoid fasting states
  • When healthy, children with CPT1A Arctic Variant should eat like any other child their age
  • When sick, if infants and toddlers are unable to tolerate glucose-containing fluids (Pedialyte, juice, sports drinks) or food for more than 6 to 8 hours, they should see a health care provider immediately to consider IV or NG glucose-containing fluids.
  • Children with CPT1A Arctic Variant who are NPO on IV fluids should always be on dextrose containing fluids (D5-NS or D5-1/2NS). A normal maintenance rate is all that is needed.

Critical Times for Affected Patients:

  • Fasting or illness during first 2 years of life
  • fever, moderate/severe infection, dehydration, Surgery


Common/Unique Medical Diagnoses