What does MKD mean in Unclassified?
This page is about the meanings of the acronym/abbreviation/shorthand MKD in the Miscellaneous field in general and in the Unclassified terminology in particular.
Mevalonate Kinase Deficiency
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Definition
What does MKD 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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"MKD." Abbreviations.com. STANDS4 LLC, 2024. Web. 26 May 2024. <https://www.abbreviations.com/term/1693319>.
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