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What is the abbreviation for mevalonate kinase deficiency?
Looking for the shorthand of mevalonate kinase deficiency? 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. 25 Sep. 2024. <https://www.abbreviations.com/mevalonate%20kinase%20deficiency>.
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