Pitfalls of Acylcarnitine Analysis - MetBio.Net

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Initial Specimen•VF 14 years•Collapse, Coma•C0 = 2 µmol/l1 Foster Victoria 1 1 (1.212) Sb (30,10.00 ); Sm (Mn, 2x1.00) 1: Parents <strong>of</strong> 85ES+100459.52.25e6Freecarnitine227.4437.5%482.5263.4311.5347.4456.5454.4484.5218.4221.4260.4277.4291.4395.1 400.6428.5480.30200 220 240 260 280 300 320 340 360 380 400 420 440 460 480 500 m/zDeuterated internal standard
Post carntine supplementation3 Foster Victoria 3 1 (1.212) Sb (30,10.00 ); Sm (Mn, 2x1.00) 1: Parents <strong>of</strong> 85ES+100459.53.15e6FreecarnitineGA 2218.4227.4437.6%201.3260.4263.4Butyrylcarnitine277.4288.4291.4Isovalerycarnitine311.5316.4HexanoylcarnitineOctonylcarnitine344.5347.5Decanoylcarnitine372.5Dodecanoylcarnitine395.3 400.5C14:1Myristoylcarnitine426.5C16:1456.5482.50200 220 240 260 280 300 320 340 360 380 400 420 440 460 480 500 m/zDeuterated internal standard
Page 1 and 2: Pitfalls of AcylcarnitineAnalysisAn
Page 3 and 4: Analytical ProblemsIsobaric interfe
Page 5 and 6: Clinical Referral• Family contact
Page 7 and 8: Screening Specimen: DerivatisedOcta
Page 9 and 10: ActionDerivatise all elevated C8 sp
Page 12 and 13: Sheffield SCBU• Contamination on
Page 14 and 15: Isobaric CompoundsAcylcarnitine MRM
Page 18 and 19: Low Free Carnitine• Included in t
Page 20 and 21: Clincal importance of CTDdiagnosisM
Page 22 and 23: Problems with early C3sCB Day 1 Day
Page 24 and 25: Maternal diagnosis• 2, Carnitine

Pitfalls of Acylcarnitine Analysis - MetBio.Net

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