Download Presentation - MetBio.Net

CPT-II Deficiency• Defect in regenerating acyl-CoA from acyl carnitine• Consequences– Toxic long chain acyl carnitines accumulate• Presentation– Classical muscular form• Adult presentation, myoglobinuria and muscle weakness onexercise• CK may be normal between attacks– Neonatal (severe/fatal) form – more hepatic• Coma, hypoketotic hypoglycaemia• Hepatomegaly, cardiomegaly, cardiac arrythmias