Abstract
Only four of over 30 possible defects of cholesterol biosynthesis have been described. Mevalonic aciduria due to mevalonate kinase deficiency is situated at the beginning of the pathway and compromises the production of nonsterol isoprenes in addition to cholesterol. Patients with this enzyme defect show a wide range of symptoms, particularly dysmorphic features, hypotonia, developmental delay, enteropathy, hepatosplenomegaly, and recurrent febrile crises. At the end of the pathway, a defect of 3β- hydroxysterol-∆7-reductase could be delineated as the cause of Smith-Lemli-Opitz syndrome (SLOS), an important multiple malformation syndrome. Amongst these malformations are a characteristic facial appearance and syndactyly of toes 2–3. Deficiency of sterol-∆8-isomerase can cause a chondrodysplasia punctata phenotype ranging from mild Conradi-Hünermann to a lethal chondrodysplasia. One child with a malformation syndrome different from SLOS and generalized accumulation of desmosterol can be assumed to have suffered from a deficiency of 3β-hydroxysterol-∆24-reductase. Further defects are likely to be unraveled in due course and Table 29.1 summarizes indications for the two available tests: determination of mevalonic acid by urinary organic acid analysis and sterol analysis by gas chromatography-mass spectrometry (GCMS).
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Hoffmann, G.F., Haas, D. (2000). Disorders of Cholesterol Synthesis. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_29
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DOI: https://doi.org/10.1007/978-3-662-04285-4_29
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