Catalog

Sitosterolaemia

No MMS code

Link to WHO Definition

Sitosterolaemia – http://id.who.int/icd/entity/808135226

Sitosterolaemia is a genetic disorder caused by deregulation of cholesterol absorption and accumulation of sterols, notably those of plant origin (hence the name phytosterolaemia). The clinical characteristics include xanthomas, premature coronary atherosclerosis, haemolytic anaemia and/or hepatopathy. The disease has been associated with mutations in two genes mapped to the STSL locus: ABCG5 and ABCG8.