Pitfalls of Acylcarnitine Analysis - MetBio.Net

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Follow Up Investigations• Octanoyl carnitine = 0.15 µmol/l• Free carnitine = 22.7 µmol/l• Organic acids = NAD822-Dec-20045538637_Dolby_1 1 (1.240) Sb (10,30.00 ); Sm (SG, 2x0.60)100227.592412: Parents <strong>of</strong> 85ES+4.25e5459.3459.7%218.4263.4437.4208.5260.4311.3347.5460.8264.5 291.6438.7243.6292.9 325.0 342.2 372.8461.5 482.6381.50200 220 240 260 280 300 320 340 360 380 400 420 440 460 480 500 m/z
Screening Specimen: DerivatisedOctanoyl carnitine = 0.09 µmol/lFree carnitine= 14.2 µmol/l9 907-Jan-20052235318_Dolby_2 1 (1.239) Sb (30,30.00 ); Sm (SG, 10x1.00)2: Parents <strong>of</strong> 85ES+227.61005.45e5%288peakC8459.6263.5437.6260.5347.5208.4218.5 311.5291.5456.5277.5482.5274.5 288.6403.5480.70200 220 240 260 280 300 320 340 360 380 400 420 440 460 480 500 m/z
Page 1 and 2: Pitfalls of AcylcarnitineAnalysisAn
Page 3 and 4: Analytical ProblemsIsobaric interfe
Page 5: Clinical Referral• Family contact
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 16 and 17: Initial Specimen•VF 14 years•Co
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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