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skos:definition |
MSH: 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.,NCI: A very rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by a deficiency of the enzyme mevalonate kinase, resulting in the accumulation of mevalonic acid in the urine. Signs and symptoms include psychomotor retardation, ataxia, recurrent fevers, skin rash, hepatosplenomegaly, and lymphadenopathy.
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