Mevalonazidurie

Mevalonic aciduria describes the autosomal recessive inherited deficiency of mevalonate kinase (MVK). MVK is the first key enzyme in the biosynthetic pathway of cholesterol. The disease results in a complete loss of function of mevalonate kinase.

The symptoms that result from this deficiency manifest in early childhood. The result is a severe, often fatal multisystemic disease.

The characteristic symptoms are psychomotor retardation, progressive cerebellar ataxia, anemia, failure to thrive, dysmorphism, developmental delays, cataracts and fevers.

Patients often have relapses in the course of the disease, including splenomegaly, diarrhea, arthralgias, hepatomegaly, lymphadenopathy, lymphadenopathy, abdominal symptoms, rashes and susceptibility to infections.

Life expectancy is often limited.