Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
GF Hoffmann, C Charpentier, E Mayatepek… - …, 1993 - publications.aap.org
Objective. Mevalonic aciduria is a consequence of the deficiency of mevalonate kinase, the
first enzyme after 3-hydroxy-3-methylglutaryl-coenzyme A reductase in the biosynthesis of
cholesterol and nonsterol isoprenes. To establish the clinical and biochemical phenotype of
mevalonic aciduria, the authors assembled their experience with 11 patients including
attempts at therapeutic interventions. Methods. Mevalonic acid in body fluids was
determined by stable isotope dilution gas chromatography/mass spectroscopy with selected …
first enzyme after 3-hydroxy-3-methylglutaryl-coenzyme A reductase in the biosynthesis of
cholesterol and nonsterol isoprenes. To establish the clinical and biochemical phenotype of
mevalonic aciduria, the authors assembled their experience with 11 patients including
attempts at therapeutic interventions. Methods. Mevalonic acid in body fluids was
determined by stable isotope dilution gas chromatography/mass spectroscopy with selected …