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VLCADD• Defect in metabolising C12 – C18 acyl CoAs• Consequences– Long chain species accumulate• Toxic and metabolised by peroxisomes and microsomes to limitbuild-up– Replacing long chain fats in diet by MCT affords Rx• <strong>Presentation</strong> – 3 forms– Neonatal – lethal with cardiomyopathy and hepaticinvolvement (hyperammonaemia, coma)– Childhood and adult – mostly muscular like adult CPT-IIwith myoglobinuria
• Variable presentationPost-Mortem Samples• Usually see increase in free and short chain acylcarnitines– May have more or less abnormalities– Useful for investigation of SUDI– Statistically, most cases reveal no biochemicalabnormalites other than PM changes– Some cases are clear cut (e.g. for MCADD)– Some cases are just uninterpretable
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 and 40: Medium Chain Acyl-CoA Dehydrogenase
Page 41: Worked Example 421Feb003IMD034 1 (1
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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