Pitfalls of Acylcarnitine Analysis - MetBio.Net

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Clincal importance <strong>of</strong> CTDdiagnosisMaternal CDT.•No cardiomyopathy•All have myopathy ( aches and pains)•Easy fatigabilityBabies•All on supplements – all doing well•One baby – withdraw from Rx. Wg lossand FTT•Recommenced symptomatic improvement
Cord Blood <strong>Analysis</strong>• Joint project, Manchester and Leeds• Cord blood was collected from births inhigh IEM prevalence areas• 25,000 samples over two years– High C3s– Maternal diagnoses– False negatives
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 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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