CPT1A Arctic Variant: Difference between revisions
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*Fasting or illness during first 2 years of life | *Fasting or illness during first 2 years of life | ||
*fever, moderate/severe infection, dehydration, Surgery | *fever, moderate/severe infection, dehydration, Surgery | ||
===Resources/References=== | |||
* [[media:Arctic-Variant-CPT-1.pdf|The Arctic Variant of CPT-1A]] (Powerpoint Presentation by Matthew Hirschfeld,MD/PhD) | * [[media:Arctic-Variant-CPT-1.pdf|The Arctic Variant of CPT-1A]] (Powerpoint Presentation by Matthew Hirschfeld,MD/PhD) | ||
*Newborn Screening Information for Parents: https://www.newbornscreening.info/Parents/fattyaciddisorders/CPT1AV.html | *Newborn Screening Information for Parents: https://www.newbornscreening.info/Parents/fattyaciddisorders/CPT1AV.html | ||
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*[[media:cpt1-brochure.pdf|CPT1 Deficiency brochure]] | *[[media:cpt1-brochure.pdf|CPT1 Deficiency brochure]] | ||
*Gillingham et al. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197793/ Impaired fasting tolerance among Alaska Native Children with a common Carnitine Palmitoyltransferase 1A sequence variant.] ''Molecular Genetics and Metabolism.'' 2011. doi: 10.1016/j.ymgme.2011.06.017. | *Gillingham et al. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197793/ Impaired fasting tolerance among Alaska Native Children with a common Carnitine Palmitoyltransferase 1A sequence variant.] ''Molecular Genetics and Metabolism.'' 2011. doi: 10.1016/j.ymgme.2011.06.017. | ||
*YouTube: "[https://www.youtube.com/watch?v=ZBJB6gLAr4Q&feature=youtu.be CPT1A Arctic Variant for Health care providers] by David Koeller | |||
[[Practicing Medicine in Bush Alaska—Some ABCs|Common/Unique Medical Diagnoses]] | |||
Latest revision as of 21:59, 19 October 2020
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
Demographics:
- 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)
Signs/Symptoms:
- 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.
Management:
- 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
Resources/References
- The Arctic Variant of CPT-1A (Powerpoint Presentation by Matthew Hirschfeld,MD/PhD)
- Newborn Screening Information for Parents: https://www.newbornscreening.info/Parents/fattyaciddisorders/CPT1AV.html
- YouTube: "The Other Energy Crisis: Arctic Variant CPT1A" https://www.youtube.com/watch?v=g-JRZ7PO3yk
- CPT1 Deficiency brochure
- Gillingham et al. Impaired fasting tolerance among Alaska Native Children with a common Carnitine Palmitoyltransferase 1A sequence variant. Molecular Genetics and Metabolism. 2011. doi: 10.1016/j.ymgme.2011.06.017.
- YouTube: "CPT1A Arctic Variant for Health care providers by David Koeller
