Increased knowledge of the genetic basis of glycogen storage disease type I provides a DNA-based diagnosis, prenatal DNA-based diagnosis in chorionic villus samples and carrier detection.

The possibility of a mitochondrial respiratory chain deficiency should be considered in liver disease of unknown origin prior to liver transplantation. Liver transplantation is a therapeutic option in mitochondrial respiratory chain deficiency-based end-stage liver disease provided that extra-hepatic involvement is carefully excluded.

In order to understand the phenotypic spectrum of this rare disorder, cardiac evaluation should be made in patients with 3-methylcrotonyl-CoA carboxylase deficiency. Biochemical and clinical investigations have also to be performed in their parents and siblings. In addition, 3-methylcrotonyl-CoA carboxylase deficiency should be included in the differential diagnosis of dilatative cardiomyopathy.

In long-term and short-term experiments with Mongolian gerbils the effects of various dietary fats and different amounts of cholesterol on progeniture and liver pathology were studied. In contrast to palm kernel oil, with 8.75% (w/w) of sunflower seed oil we observed fewer litters and a decreased survival of the sucklings. On 0.2% of cholesterol we observed severe hypercholesterolemia and storage of cholesterol ester in the liver, ultimately leading to cirrhosis. On 0.05% for 6 months the gerbils stayed in good health. Progeniture was unaffected on this level of intake.

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