Inborn errors of metabolism with consequences for bile acid biosynthesis. A minireview.

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Bjorkhem I

Inborn errors of metabolism with consequences for bile acid biosynthesis. A minireview.

Scand J Gastroenterol Suppl. 1994;204:68-72.

PubMed ID

7824882 [ View in PubMed

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Abstract

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.

DrugBank Data that Cites this Article

Drug Enzymes

Drug	Enzyme	Kind	Organism	Pharmacological Action	Actions
Chenodeoxycholic acid	Sterol 26-hydroxylase, mitochondrial	Protein	Humans	Unknown	Substrate	Details