Mevalonic aciduria is an autosomal recessive disorder caused by mutations of the MVK gene. The disease is characterized by failure to thrive, psychomotor retardation, ataxia, recurrent fever, hepatosplenomegaly, and central cataracts. Death occurs in early childhood.
Mevalonate kinase-associated inflammatory diseases | ||||
Hyper-IgD syndrome | ||||
Mevalonic aciduria | ||||
MVK | ||||
Porokeratosis 3 | ||||
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OMIM.ORG article Omim 610377 |
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Orphanet article Orphanet ID 29 |
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Wikipedia article Wikipedia EN (Mevalonate_kinase_deficiency) |