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- 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.
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"mevalonate kinase deficiency." Anagrams.net. STANDS4 LLC, 2024. Web. 16 May 2024. <https://www.anagrams.net/mevalonate%20kinase%20deficiency>.
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