Druggio

Mevalonate kinase deficiency

Mevalonate kinase deficiency is an autosomal recessive disorder, which is identified as the cause of two inherited human autoinflammatory disorders: mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS). Mevalonate kinase is located at the beginning of the cholesterol biosynthesis pathway compromising the biosynthesis of nonsterol isoprenes in addition to cholesterol. Patients of MVA show the symptoms, including dysmorphic features, cataracts, neurologic symptoms. The majority of patients with HIDS experience only recurrent febrile crises, without any neurologic abnormalities or dysmorphic features. Mevalonic kinase activity in HIDS patients is generally in the range of 5-15% of normal as compared to 0-4% in MVA.

Drugs that treat Mevalonate kinase deficiency

Ilaris

Made by

Novartis

Approval date

2011/9/26

Treats

Tumor necrosis factor receptor-associated periodic syndrome, Familial periodic fever Cryopyrin associated periodic syndrome Mevalonate kinase deficiency Familial Mediterranean fever, Familial hereditary periodic fever syndromes Familial cold autoinflammatory syndrome, Familial cold urticaria See 1 more disease(s)