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

Five inborn errors with consequences for bile acid biosynthesis have been described: 7-dehydrocholesterol 7-reductase deficiency, 3 beta-hydroxysteroid Delta(5)-oxidoreductase/isomerase deficiency, 3-oxo-Delta(4)-steroid 5 beta-reductase deficiency, sterol 27-hydroxylase deficiency (cerebrotendinous xanthomatosis), and peroxisomal disease(s) with absence of peroxisomes. Diagnosis and treatment of these very rare disorders are discussed. Bile acid therapy is important in most of these disorders, and in the case of 3 beta- hydroxysteroid Delta(5)-oxidoreductase/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 treatment with chenodeoxycholic acid may prevent the development of progressive neurological dysfunction, dementia, and ataxia. In the latter three cases early diagnosis and treatment is of utmost importance.