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Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

✍ Scribed by Chitra Prasad; Marina I. Salvadori; C.A. Rupar

Book ID
118507218
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
349 KB
Volume
107
Category
Article
ISSN
1096-7192

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## Communicated by Johannes Zschocke Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disorder caused by mutations in the MVK gene resulting in deficient activity of mevalonate kinase (MK). Depending on the clinical severity, MKD may present as hyper-IgD and periodic fe