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• Lab findings– Organic acidsMCADD 2• Characteristic metabolites present during acute crises• Profile may be normal when well– Acyl carnitines• Profiles preserved in well-states• Molecular Biology– 80 - 90% of caucasian cases have G985A mutation– Several other mutations know• A799G, T157C, A447G, C730T, C1124T etc• Some are clinically silent, but not biochemically so– Incidence of MCADD may change when MS/MS screening routine
Worked Example 421Feb003IMD034 1 (1.107) Sm (SG, 2x0.75); Sb (33,10.00 )218.41001: Parents of 85ES+2.68e6426.5456.8%221.2228.9260.6263.3277.6375.6372.7347.6 400.9403.8424.8482.7484.3427.8454.6428.6480.8431.8 442.0 459.6468.5512.1509.80220 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 29 and 30: Isovaleric AciduriaIM D 252 1 (1.02
Page 31 and 32: Glutaric Aciduria Type 1Tryptophans
Page 33 and 34: Worked Example 130Jan003IMD025 1 (1
Page 35 and 36: Worked Example 2010202-15201Feb02-1
Page 37 and 38: • Presentation- Very heterogeneou
Page 39: Medium Chain Acyl-CoA Dehydrogenase
Page 43 and 44: • Variable presentationPost-Morte
Page 45 and 46: Diagnosis?302459260263347456
Page 47 and 48: Why?• PAR 85 experiment not speci
Page 49 and 50: IsomersH 3 CH 2 C CH 2H 2 C CH 2H 3
Page 51 and 52: • Non-derivitisationOther Conside

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