Pitfalls of Acylcarnitine Analysis - MetBio.Net

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Problems with early C3sCB Day 1 Day3 screening Organic acidsCorb BloodStudyDiagnosticspecimen/sibwith PAC3µmol/lC3µmol/l7.8 6.4 0.8 No abnormalitydetected @3 day9.2 52 Pattern consistantwith PA @1dayLeeds diagnostic ref : 0.3 – 2.6CDC screening cut <strong>of</strong>f, mean: 7
Early diagnosis GA2C3 C4 C5 C6 C8 C10 C10:1 C5DC C12 C14 C16Cord blood B 17.2 0.84 0.67 0.73 0.09 0.08 0.12 0.1 0.03 0.27 0.5 2.28ay 22.7 1.01 12.0 3.63 3.44 5.34 3.91 0.63 0.91 4.97 3.16 8.0924 hrs old
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 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 24 and 25: Maternal diagnosis• 2, Carnitine

Pitfalls of Acylcarnitine Analysis - MetBio.Net

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