INBORN-ERRORS OF METABOLISM WITH CONSEQUENCES FOR BILE-ACID BIOSYNTHESIS - A MINIREVIEW

Five inborn errors with consequences for bile acid biosynthesis have b een described: 7-dehydrocholesterol 7-reductase deficiency, 3 beta-hyd roxysteroid Delta(5)-oxidoreductase/isomerase deficiency, 3-oxo-Delta( 4)-steroid 5 beta-reductase deficiency, sterol 27-hydroxylase deficien cy (cerebrotendinous xanthomatosis), and peroxisomal disease(s) with a bsence of peroxisomes. Diagnosis and treatment of these very rare diso rders are discussed. Bile acid therapy is important in most of these d isorders, and in the case of 3 beta- hydroxysteroid Delta(5)-oxidoredu ctase/isomerase deficiency and 3-oxo-Delta(4)-steroid 5 beta-reductase deficiency such therapy may save the life of the affected cholestatic infant. In the case of sterol 27-hydroxylase deficiency, early treatm ent with chenodeoxycholic acid may prevent the development of progress ive neurological dysfunction, dementia, and ataxia. In the latter thre e cases early diagnosis and treatment is of utmost importance.