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ABSTRACT. 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 ion monitoring, ubiquinone-10 concentrations by reversed-phase high-pressure liquid chromatography. Results. Varying degrees of severity of clinical illness were observed despite uniform, virtual absence of residual activity of the enzyme. The most severely affected patients have had profound developmental delay, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, and anemia, as well as diarrhea and malabsorption, and have died in infancy. Less severely affected patients have had psychomotor retardation, hypotonia, myopathy, and ataxia. All patients have had recurrent Crises in which there was fever, lymphadenopathy, increase in size of liver and spleen, arthralgia, edema, and a morbilliform rash. Neuroimaging studies revealed selective and progressive atrophy of the cerebellum. Mevalonic acid concentrations were found to be grossly elevated in body fluids of all patients. Concentrations I of plasma cholesterol were normal or only... [ABSTRACT FROM AUTHOR]

The launch of the G-DRG system version 2004 made it necessary to update our former studies on the importance of laboratory testing (Clin Lab 2002;48:327-333). Using a systematic search algorithm, we established a total of 2,828 comorbidities, the ICD coding of which has a positive effect on case reimbursement, thus helping to secure hospital revenue. 62% of these comorbidities were found to depend exclusively or predominantly on laboratory testing. On average, one such comorbidity can be said to influence approximately 100 DRGs (range 2 to 226). In order to gain a clearer idea of the practical benefit of such "hits", amounting to several 100,000s, we selected about 5% of them for illustration with a computer program called DRG Watchdog. This program shows just how much additional reimbursement can be achieved for a specific DRG upon the ICD coding of a specific comorbidity. The program is freely available on the Internet at www.trillium.de and enjoys more than 100 search runs per day.