Marcela Odaira - Clinical Immunology Society
Marcela Odaira - Clinical Immunology Society
Marcela Odaira - Clinical Immunology Society
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MEVALONATE KINASE DEFICIENCY Autosomal recessive disorder SEVERE Mevalonic aciduria – no MK activity Severe CNS involvement, mental retardation, ataxia, myopathy,poor growth, and early death MILD Hyper-IgD – reduction in MK activity (1-10% of normal levels)