Pitfalls of Acylcarnitine Analysis - MetBio.Net

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Baby ADOctanoyl Carnitine =Free carnitine =(C10:1 C6 not elevated)14-Jan-2005Dolby_BLOOD 1 (1.208) Sb (30,30.00 ); Sm(SG, 10x1.00)1001.5 µmol/l10 µmol/l403.62: Parents <strong>of</strong> 85ES+3.95e6%381.60291.5207.5400.6171.6255.6426.5204.6 235.5288.5424.6221.6316.7160 180 200 220 240 260 280 300 320 340 360 380 400 420 440 m/z
Clinical Referral• Family contacted bylocal consultant• MCAD protocolfollowed• Samples taken• Information given
Page 1 and 2: Pitfalls of AcylcarnitineAnalysisAn
Page 3: Analytical ProblemsIsobaric interfe
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 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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