Significant Liver Disease in a Patient With Y116H Mutation in the MVK Gene

摘要

Mevalonate kinase deficiency is caused by mutations in the mevalonic kinase (MVK) gene and is associated with a spectrum of systemic disease ranging from severe (mevalonic aciduria, MA) to mild (hyper-immunoglobulin D syndrome). Both disorders are inherited in an autosomal recessive pattern and are caused by mutations in the MVK gene. Patients with MA typically presents as infants and can have psychomotor retardation, ataxia, developmental delay, failure to thrive, dysmorphic features, anemia and recurrent crises characterized by lymphadenopathy, fever, arthralgias, and rash. Patients with MA usually die in childhood [Prietsch et al., 2003]. Hyper-immunoglobulin D syndrome (Hyper-IgD syndrome) usually presents in the first year of life and is associated with lifelong recurrent episodes of fever, lymphadenopathy, skin rash, and abdominal pain [Drenth et al., 2001 ]. Hyper Ig-D syndrome (HIDS) has fewer neurologic manifestations than MA. MVK is an enzyme involved in the synthesis of sterol isoprenoids, such as cholesterol and non-sterol isoprenoids such as ubiquinone. It is unclear what causes the inflammatory attacks in MVK deficiency.