Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

摘要: Objective Mevalonic aciduria is a consequence of the deficiency mevalonate kinase, first enzyme after 3-hydroxy-3-methylglutaryl-coenzyme A reductase in biosynthesis cholesterol and nonsterol isoprenes. To establish clinical biochemical phenotype mevalonic aciduria, authors assembled their experience with 11 patients including attempts at therapeutic interventions. Methods acid body fluids was determined by stable isotope dilution gas chromatography/mass spectroscopy selected ion monitoring, ubiquinone-10 concentrations reversed-phase high-pressure liquid chromatography. Results Varying degrees severity illness were observed despite uniform, virtual absence residual activity enzyme. The most severely affected have had profound developmental delay, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, as well diarrhea malabsorption, died infancy. Less psychomotor retardation, hypotonia, myopathy, ataxia. All recurrent crises which there fever, increase size liver spleen, arthralgia, edema, morbilliform rash. Neuroimaging studies revealed selective progressive atrophy cerebellum. found to be grossly elevated all patients. Concentrations plasma normal or only slightly reduced. decreased Abnormalities such hypoglycemia, metabolic acidosis, lactic acidemia, usual concomitants disorders organic metabolism, conspicuously absent. Conclusions These observations broad range symptoms findings aciduria. It concluded that although recognizable serious manifestations, some are likely remain undiagnosed may variety subspecialty clinics, neurology, gastroenterology, cardiology, genetics.