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• Sample requirementsAnalytical Aspects– Dried blood spot (3mm disc punched)– Plasma/serum – 100µL (10 µL used)• Early literature suggested problems with EDTA, but LiHep,FlOx and EDTA OK in personal experience– Urine – 100µL (10 µL used)– Bile – 100µL (10 µL used)• Essentially the same for PKU screening assay
Blood spotsPlasma (and other fluids)Punch 3mm disk of blood spotinto microtitre plate or EppendorftubePipette 10 µL fluid into Eppendorf tubeAdd 200 µL internal standardAdd 200 µL internal standardCover and mix for 30'Cap, mix and centrifugeTransfer to polypropylene microtitre plateEvaporate to drynessAdd 100µL "3M" HCl in n-BuOHCover and heat @ 45 - 60°C for 20'Evaporate to drynessReconstitute with 80% MeCNAnalyse
Page 1 and 2: Acylcarnitines And InheritedMetabol
Page 3 and 4: CarnitineCOO -HO• Essential compo
Page 5 and 6: Catabolism: A Bird’s-eye ViewProt
Page 7 and 8: The Carnitine CycleFree carnitineFa
Page 9: Acyl Carnitines in Fatty AcidOxidat
Page 13 and 14: MS/MS 2• Parents of m/z 85 - acyl
Page 15 and 16: Normal Acylcarnitine Pattern16Apr00
Page 17 and 18: Why Numbers?• Acylcarnitines are
Page 20 and 21: CPT-I Deficiency 1• Blocked forma
Page 23: CPT-II Deficiency• Defect in rege
Page 29 and 30: Isovaleric AciduriaIM D 252 1 (1.02
Page 31 and 32: Glutaric Aciduria Type 1Tryptophans
Page 33 and 34: Worked Example 130Jan003IMD025 1 (1
Page 35 and 36: Worked Example 2010202-15201Feb02-1
Page 37 and 38: • Presentation- Very heterogeneou
Page 39 and 40: Medium Chain Acyl-CoA Dehydrogenase
Page 41 and 42: Worked Example 421Feb003IMD034 1 (1
Page 43 and 44: • Variable presentationPost-Morte
Page 45 and 46: Diagnosis?302459260263347456
Page 47 and 48: Why?• PAR 85 experiment not speci
Page 49 and 50: IsomersH 3 CH 2 C CH 2H 2 C CH 2H 3
Page 51 and 52: • Non-derivitisationOther Conside

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