Mevalonate kinase deficiency in a dizygotic twin with mild mevalonic aciduria.

摘要: Mevalonic aciduria, the result of mevalonate kinase (MKase) deficiency (McKusick 251170), is a rare abnormality cholesterol and nonsterol isoprene biosynthesis identified in approximately 14 patients. The phenotype includes developmental delays, failure to thrive, hypotonia, ataxia, organomegaly, dysmorphia, cataracts, lymphadenopathy, myopathy fat malabsorptive enteropathy. Many patients have recurrent febrile crises, accompanied by vomiting, diarrhoea, elevated white cell count erythrocyte sedimentation rates, as well arthralgia, oedema morbilliform rash (Hoffmann et al 1993). Recently show evidence ineffective erythropoiesis (K.M. Gibson, unpublished data). Despite considerable phenotypic variation, urinary excretion mevalonic acid has been consistently massively at 0.9-56 mol/mol creatinine (normal < 0.003 mol/mol), without other metabolic abnormalities. MKase activity undetectable extracts peripheral or cultured cells derived from all 1991). In current report, we describe newborn whose increased concentrations urine plasma were considerably lower than levels detected pattern correlated with mild clinical course significant residual cells.