CPT1 Deficiency Update - ANTHC

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The Big Questions: • What is the clinical impact of the P479L sequence variant ? • What is the true incidence of <strong>CPT1</strong>A deficiency in Alaska • Do we need to identify and treat affected infants ?
Previous Reports of the P479L variant • Cheryl Greenberg reported a three generation Inuit kindred – 18/22 homozygous for P479L – 3/22 heterozygous • Collected 500 samples from an Inuit village for DNA testing – 70% homozygous for P479L – 28% heterozygous • Early data from BC suggests at least 18% of First Nations infants are homozygous for P479L – Hilary Vallance, UBC, Vancouver
Page 1 and 2: Carnitine Palmitoyltransferase 1A D
Page 3 and 4: CPT1 is required for the import of
Page 5 and 6: In the presence of an adequate gluc
Page 7 and 8: Regulation of CPT1 activity
Page 9 and 10: Goals • CPT1A • CPT1A deficienc
Page 11 and 12: CPT1A Deficiency: Treatment • Avo
Page 13 and 14: Newborn Screening for CPT1A Deficie
Page 17 and 18: The Big Questions: • What is the
Page 19 and 20: Retrospective genotyping of newborn
Page 21: Summary • There is evidence sugge
Page 25 and 26: Due to concern that routine newborn
Page 27 and 28: Results: • The P479L variant is d
Page 29 and 30: C0/ (C16 + C18) MS/MS data for all
Page 31 and 32: The Big Questions: • What is the
Page 33 and 34: Infant Mortality Rates (1992-2004)
Page 37 and 38: Ongoing Studies • Impact of CPT1A
Page 39: Acknowledgements • Alaska DHSS -

CPT1 Deficiency Update - ANTHC

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