CPT1A Arctic Variant - Revision history

JenniferH at 21:59, 19 October 2020

2020-10-19T21:59:39Z

← Older revision		Revision as of 21:59, 19 October 2020
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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~~:'''~~		===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

JenniferH at 16:02, 24 September 2020

2020-09-24T16:02:04Z

← Older revision		Revision as of 16:02, 24 September 2020
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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]]		[[Practicing Medicine in Bush Alaska—Some ABCs\|Common/Unique Medical Diagnoses]]

JenniferH at 10:15, 24 September 2020

2020-09-24T10:15:32Z

← Older revision		Revision as of 10:15, 24 September 2020
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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.

			[[Practicing Medicine in Bush Alaska—Some ABCs\|Common/Unique Medical Diagnoses]]

JenniferH: Created page with "'''Carntitine Palmitoyl Transferase, Type 1A Arctic Variant (CPT1A Acrtic Variant)'''
''(Adapted from Pocket-Guide-to-Alaska-Native-Pediatric-Diagnoses web.pdf|Pocket G..."

2020-09-24T10:14:50Z

Created page with "'''Carntitine Palmitoyl Transferase, Type 1A Arctic Variant (CPT1A Acrtic Variant)''' ''(Adapted from Pocket-Guide-to-Alaska-Native-Pediatric-Diagnoses web.pdf|Pocket G..."

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'''Carntitine Palmitoyl Transferase, Type 1A Arctic Variant (CPT1A Acrtic Variant)'''
 ''(Adapted from [[Pocket-Guide-to-Alaska-Native-Pediatric-Diagnoses web.pdf|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:'''
* [[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
*YouTube: "The Other Energy Crisis: Arctic Variant CPT1A" https://www.youtube.com/watch?v=g-JRZ7PO3yk
*[[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.

CPT1A Arctic Variant - Revision history

JenniferH at 21:59, 19 October 2020

JenniferH at 16:02, 24 September 2020

JenniferH at 10:15, 24 September 2020

JenniferH: Created page with "'''Carntitine Palmitoyl Transferase, Type 1A Arctic Variant (CPT1A Acrtic Variant)''' ''(Adapted from Pocket-Guide-to-Alaska-Native-Pediatric-Diagnoses web.pdf|Pocket G..."

JenniferH: Created page with "'''Carntitine Palmitoyl Transferase, Type 1A Arctic Variant (CPT1A Acrtic Variant)'''
''(Adapted from Pocket-Guide-to-Alaska-Native-Pediatric-Diagnoses web.pdf|Pocket G..."