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CPT-I Deficiency 1• Blocked formation of long chain acyl carnitines fromacyl-CoA esters– Long chain acyl-CoA species accumulate – toxic!– Other pathways metabolise them (peroxisomes) to mediumchain species which are free to enter b-oxidation• Presentation – largely hepatic– Coma, seizures, hepatomegaly, hypoketotichypoglycaemia (often set off by fasting)– Some cases have increased CK(MM) – not all– No chronic muscle weakness or cardiomyopathy