Mevalonate Kinase Deficiency
Synonyms
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
Mevalonicaciduria
Mevalonicacidurias
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.