Mevalonate Kinase Deficiency


Aciduria, Mevalonic

Hyper IgD Syndrome

Hyper IgD Syndromes

Hyper-IgD Syndrome

Hyper-IgD Syndromes

Hyperimmunoglobulinemia D

Hyperimmunoglobulinemia D And Periodic Fever Syndrome

Kinase Deficiencies, Mevalonate

Kinase Deficiency, Mevalonate

Mevalonate Kinase Deficiencies

Mevalonic Aciduria



Periodic Fever, Dutch Type

Syndrome, Hyper-IgD

Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.