1. Possible defects in cholesterol metabolism were sought in children with familial hypercholesterolaemia.
2. In nine affected children (eight heterozygotes and one homozygote) and in five healthy children, cholesterol synthesis and bile acid synthesis were determined from the excretion of steroids in the faeces during a low cholesterol diet. Cholesterol synthesis of 10·1 ± 4·4 mg day−1 kg−1 in the hypercholesterolaemic children was similar to that in these and other normal children. Mean bile acid synthesis of 4·0 ± 2·1 mg day−1 kg−1 also resembled normal values though three severely affected heterozygotes excreted substantially less.
3. The response to 4 weeks' additional 450 mg of dietary cholesterol/day led to variable changes in the plasma cholesterol and in the sterol balance. On average the affected children showed a rise in plasma cholesterol which resembled that in healthy subjects. The sterol balance fell in most, suggesting a reduction in cholesterol synthesis, which is the normal response to dietary cholesterol.
4. The response to dietary cholesterol was therefore at least qualitatively similar in the hypercholesterolaemic children to that reported in healthy subjects.