Abstract
Both mevalonic aciduria, characterized by psychomotor retardation, cerebellar ataxia, recurrent fever attacks, and death in early childhood, and hyper-immunoglobulin D (hyper-IgD) syndrome, with recurrent fever attacks without neurologic symptoms, are caused by a functional deficiency of mevalonate kinase. In a systematic review of known mevalonate kinase-deficient patients, the authors identified five adults with phenotypic overlap between these two syndromes, which argues for a continuous spectrum of disease. Mevalonate kinase deficiency should be considered in adult patients with fitting neurologic symptoms, with or without periodic fever attacks.
Publication types
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Case Reports
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Child
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Child, Preschool
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DNA Mutational Analysis
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Enzyme Activation / genetics
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Exanthema / genetics*
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Exanthema / metabolism
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Female
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Fever / genetics*
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Fever / metabolism
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Humans
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Immunoglobulin D / metabolism*
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Infant
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Lymphatic Diseases / genetics*
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Lymphatic Diseases / metabolism
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Male
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Mevalonic Acid / metabolism
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Mevalonic Acid / urine
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Middle Aged
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Mutation
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Periodicity
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Phenotype*
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Phosphotransferases (Alcohol Group Acceptor) / deficiency*
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Phosphotransferases (Alcohol Group Acceptor) / genetics
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Recurrence
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Registries / statistics & numerical data
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Syndrome
Substances
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Immunoglobulin D
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Phosphotransferases (Alcohol Group Acceptor)
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mevalonate kinase
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Mevalonic Acid