Mevalonic aciduria in 3 siblings: A new recognizable metabolic encephalopathy

摘要: Mevalonic aciduria, due to mevalonate kinase deficiency, is the first recognized defect in biosynthesis of cholesterol and isoprenoids. Very few patients with this disorder have been reported. Three siblings born from consanguineous parents are Several clinical signs were present all 3 children, including failure-to-thrive, susceptibility infections, hepatosplenomegaly, cataract, psychomotor retardation. Dysmorphic features more apparent two older siblings. Urinary organic acid analysis by gas chromatography/mass spectrometry invariably revealed a high urinary excretion rate mevalonic acid. Mevalonate activity assayed fibroblasts was very low. Diagnosis rare disease may be suspected simply on evidence; it confirmed abnormal