Catalog

Lathosterolosis

No MMS code

Link to WHO Definition

Lathosterolosis – http://id.who.int/icd/entity/1816858203

Lathosterolosis is an inborn error of cholesterol biosynthesis caused by 3-beta-hydroxysteroid-delta-5-desaturase (SC5D) deficiency and associated with malformations, intellectual deficit and liver disease.