CPT1 Deficiency Update - ANTHC

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Are we finding all of the affected infants? • We have identified 129 affected infants • Many infants were picked up on third screens that were done as a result of an abnormal thyroid or other test • Infants identified on a third screen had two previously normal screens
Due to concern that routine newborn screening was missing a significant number of affected infants we did a formal analysis of the sensitivity of MS/MS to detect <strong>CPT1</strong>A deficiency due to the P479L variant
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 and 22: Summary • There is evidence sugge
Page 23: Previous Reports of the P479L varia
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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