CPT1 Deficiency Update - ANTHC

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• A 2 year old Alaska Native boy came to the Shriner’s Hospital in Portland for Achilles tendon release • Pre and Post-Op IV fluids = normal saline, no glucose • Post-Op lethargy led to transfer to the PICU at OHSU • Admission labs: glucose = 34, serum HCO 3 = 10 • Developed severe lactic acidosis, and a coagulopathy • He had a generalized seizure shortly after admission • DNA testing: homozygous 1436T = affected • He was born three months prior to the start of expanded newborn screening in Alaska
Summary • There is evidence suggestive of an increased risk of morbidity and mortality in infants homozygous for 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: Retrospective genotyping of newborn
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 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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