Mesh term Mevalonate Kinase Deficiency
Browse to parent terms:Brain Diseases, Metabolic, Inborn
Hereditary Autoinflammatory Diseases
Hypergammaglobulinemia
Peroxisomal Disorders
Description
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.Search for this term in our Faculty Database
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