Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria

摘要: Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with complex multi-systemic phenotype. We describe two deceased patients clinically severe mevalonate (MK) confirmed by MK mutation analysis. The phenotype in our ranged from neonatal hydrops the first patient to failure thrive, hepatosplenomegaly, recurrent febrile episodes and lymphadenopathy second. Both infants excreted relatively low amounts of mevalonic acid intermittently.