Hepatic Form lethalinfantile

The second form presents as a lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. Reduced CPT II activity in multiple organs is observed and reduced concentrations of total and free carnitine and increased concentrations of lipids and long chain acylcarnitine can be found. The accumulation of long-chain acylcarnitines has an arrhythmogenic effect on the heart. The patients presented with hypoketotic hypo-glycaemia, seizures, tachycardia, cardiomegaly, hepatomegaly, liver failure and died within the first two years.

Since its first description in 1989 only a few cases have been reported.1013 It was pointed out that the difference in clinical severity of CPT II deficiency in adult and new-borns is not determined by the degree of reduction in CPT II activity nor in the tissue distribution of the deficiency since isoforms of the enzyme do not exist and the magnitude of the reduction is similar in both forms of the disease.

In 1995 an exceptional case of neonatal CPT II deficiency was published, which presented as a lethal myopathy. The common metabolic features of the lethal infantile form were absent.14

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