SummaryMevalonic acidemia is a rare metabolic disorder due to mevalonate kinase deficiency which affects the biosynthesis of cholesterol and nonsterol isoprenes. We report the first case of Japan. The clinical course is characterized by intrauterine growth retardation, postnatal growth failure, intractable diarrhea, liver dysfunctions and death at three months of age. Dysmorphic features including triangular face, protrusion of forehead, hypertelorism, low set ears and micrognathism were noted. High mevalonic acid level was found by GC/MS.
At the doses used in this study, aspirin and dipyridamole inhibited platelet aggregation for up to 3 days after cessation of medication. This abnormality of aggregation was not detected by the bleeding time and was not associated with clinically abnormal bleeding.
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