Article
Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.
Pediatric rheumatology online journal - 25 Mar 2016
Peciuliene Skaiste, Burnyte Birute, Gudaitiene Rymanta, Rusoniene Skirmante, Drazdiene Nijole, Liubsys Arunas, Utkus Algirdas
Abstract excerpt
BACKGROUND: Mevalonate kinase deficiency is a metabolic autoinflammatory syndrome caused by mutations in the MVK gene, mevalonate kinase, the key enzyme in the non-sterol isoprenoid biosynthesis pathway. Two phenotypes of mevalonate kinase deficiency are known based on the level of enzymatic deficiency, mevalonic aciduria and hyperimmunoglobulinemia D syndrome, but a wide spectrum of intermediate phenotypes has...
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