Sitosterolemia
Sitosterolemia is a rare genetic disorder characterized by the abnormal accumulation of plant sterols (phytosterols) in the body, particularly sitosterol. This condition disrupts cholesterol metabolism,…
Niemann Pick Disease Type C
Niemann Pick disease type C (NPC) is a rare, inherited lysosomal storage disorder that affects lipid metabolism, leading to progressive neurological decline. It results from…