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Isovaleric AciduriaIM D 252 1 (1.021) S m (S G , 2x0.75); S b (33,10.00 ) 1: P arents of 85E S +221.21001.13e6218.3302.4%260.2261.3263.2459.5243.2288.2316.4347.2456.7356.3 482.60200 220 240 260 280 300 320 340 360 380 400 420 440 460 480 500 520 540m /z
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 and 10: Acyl Carnitines in Fatty AcidOxidat
Page 11 and 12: Blood spotsPlasma (and other fluids
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 30 and 31: • Clinical FeatureGlutaric Acidur
Page 32 and 33: Glutaric Aciduria Type 115FebIMD007
Page 34 and 35: Translocase Deficiency• Defect in
Page 36 and 37: LCHADD 1• Defective metabolism of
Page 38 and 39: Worked Example 303MAY02IMD020 1 (1.
Page 40 and 41: • Lab findings- Organic acidsMCAD
Page 42 and 43: VLCADD• Defect in metabolising C1
Page 44 and 45: Typical Post-Mortem Profile2 M a y0
Page 46 and 47: Wrong!
Page 48 and 49: Isobaric Species• Compounds with
Page 50 and 51: Isomers & Isobars - On The Buses…
Page 52: Summary• Acylcarnitine profiling

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