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Retinitis pigmentosa in mevalonate kinase deficiency

✍ Scribed by B. Balgobind; D. Wittebol-Post; J. Frenkel


Publisher
Springer
Year
2005
Tongue
English
Weight
86 KB
Volume
28
Category
Article
ISSN
0141-8955

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Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Fam

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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