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Worked Example 303MAY02IMD020 1 (1.105) Sm (SG, 2x0.75); Sb (33,10.00 )100344.51: Parents of 85ES+2.75e6260.4%218.5221.4263.4277.5288.6316.4336.5347.4370.3372.6459.5456.5 470.50220 240 260 280 300 320 340 360 380 400 420 440 460 480 500 520 540m/z
Medium Chain Acyl-CoA DehydrogenaseDeficiency 1• Defective oxidation of C6 – C10 acyl CoA• Clinical– Commonest fatty acid oxidation defect but easily treated!– Ca. 1:15000 incidence in NW Europe– 25% of patients die at first episode– 25% remain unsymptomatic for life– Hypoketotic hypoglycaemia during acute attacks– Liver dysfunction– Lethargy/coma– Cardiomyopathy, respiratory arrest
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: • Presentation- Very heterogeneou
Page 41 and 42: Worked Example 421Feb003IMD034 1 (1
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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