Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.

  title={Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.},
  author={Georg Hoffmann and Kenneth Michael Gibson and Ira K. Brandt and Patricia I. Bader and Rebecca S. Wappner and Lawrence Sweetman},
  journal={The New England journal of medicine},
  volume={314 25},
A two-year-old boy presented with severe failure to thrive, developmental delay, anemia, hepatosplenomegaly, central cataracts, and dysmorphic features. Quantitative analyses of urinary organic acids revealed massive excretion of mevalonic acid, a metabolic precursor of cholesterol and nonsterol isoprenes: 46,000 to 56,200 mmol per mole of creatinine, as compared with 0.2 to 0.3 mmol per mole in normal children. The mevalonic acid concentration in plasma was also greatly increased at 440 mumol… CONTINUE READING
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