CPT1 Deficiency Update - ANTHC

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Infant Mortality Rates (1992-2004) 2004) Region # deaths IMR Northern 83 12.1* Northern Southwest 123 10.8* Anchorage/M at-Su 425 6.3 (ref) Gulf Coast 84 6.2 Interior 140 6.2 Southeast 79 6.2 Southwest Interior Gulf Coast Anchorage/ Matanuska-Susitna Southeast *Rate is significantly different from IMR for residents of Anchorage/Mat-Su region Data source: Alaska Bureau of Vital Statistics
Goals • CPT1A • CPT1A deficiency • Newborn Screening for CPT1A Deficiency • Public Health Concerns
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 15 and 16: Goals • CPT1A • CPT1A deficienc
Page 17 and 18: The Big Questions: • What is the
Page 19 and 20: Retrospective genotyping of newborn
Page 21 and 22: Summary • There is evidence sugge
Page 23 and 24: Previous Reports of the P479L varia
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: 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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