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National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics

16 Feb 2018

Abstract excerpt

OBJECTIVES: Mevalonate kinase deficiency (MKD), a rare autosomal recessive autoinflammatory syndrome, is caused by disease-causing variants of the mevalonate kinase (MVK) gene. A national survey was undertaken to investigate clinical and genetic features of MKD patients in Japan. METHODS: The survey identified ten patients with MKD. Clinical information and laboratory data were collected from medical records and...

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PMID: 29451047
DOI: 10.1080/14397595.2018.1442639

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