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Acronyms that contain the term mevalonate kinase deficiency
What does mevalonate kinase deficiency mean? This page is about the various possible meanings of the acronym, abbreviation, shorthand or slang term: mevalonate kinase deficiency.
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| Term | Definition | Rating |
|---|---|---|
| MKD | Mevalonate Kinase Deficiency |
What does mevalonate kinase deficiency mean?
- 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.
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"mevalonate kinase deficiency." Abbreviations.com. STANDS4 LLC, 2024. Web. 26 Dec. 2024. <https://www.abbreviations.com/mevalonate%20kinase%20deficiency>.
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