What does mevalonate kinase deficiency mean?
Definitions for mevalonate kinase deficiency
meval·onate ki·nase de·fi·cien·cy
This dictionary definitions page includes all the possible meanings, example usage and translations of the word mevalonate kinase deficiency.
U.S. National Library of Medicine
Mevalonate Kinase Deficiency
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.
Numerology
Chaldean Numerology
The numerical value of mevalonate kinase deficiency in Chaldean Numerology is: 4
Pythagorean Numerology
The numerical value of mevalonate kinase deficiency in Pythagorean Numerology is: 7
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"mevalonate kinase deficiency." Definitions.net. STANDS4 LLC, 2024. Web. 29 Apr. 2024. <https://www.definitions.net/definition/mevalonate+kinase+deficiency>.
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