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LCHADD 1• Defective metabolism of long chain 3-hydroxyacyl-CoA• Consequences– Build-up of long chain 3-hydroxyacyl-CoA species– Evidence of toxicity• Cardiotoxic• Other effects on metabolism• Replacement of long chain fats with medium chainspecies and carbohydrate rich feeds is means of Rx
• <strong>Presentation</strong>– Very heterogeneousLCHADD 2• Fulminant liver disease – liver disease may be very severe inLCHADD• Hypertrophic cardiomyopathy• Occasionally progressive neuropathy/ pigmenting retinopathy(neuropathy uncommon in other FAODs)– Most have fasting-induced hypoketotic hypoglycaemia– Some have cardiomegaly (LVH)– Some have muscle weakness – elevated CK andmyoglobinuria may be seen during attacks
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: Worked Example 2010202-15201Feb02-1
Page 39 and 40: Medium Chain Acyl-CoA Dehydrogenase
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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