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5C52.11 Bile acid synthesis defect with cholestasis

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Eight inborn errors have been clearly identified, 7 of which lead to liver cholestasis and include: 3β-hydroxy-C27-steroid oxidoreductase deficiency (type 1), Δ4-3-oxosteroid 5β-reductase deficiency (type 2), oxysterol 7α-hydroxylase deficiency (type 3), 2-methylacyl-CoA racemase deficiency (type 4), bile acid CoA ligase deficiency, and cerebrotendinous xanthomatosis. Cholesterol 7α-hydroxylase deficiency leads to hypercholesterolaemia without liver cholestasis.

postcoordination

synonyms

• Bile acid synthesis defect with cholestasis
• Anomaly of bile acid synthesis
• Cerebrotendinous xanthomatosis
• Sterol 27-hydroxylase deficiency
• Van Bogaert-Scherer-Epstein disease
• Cholestanol storage disease
• CTX - [Cerebrotendinous xanthomatosis]
• Congenital bile acid synthesis defect type 1
• 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
• 3-beta-hydroxysterol delta5-oxidoreductase/isomerase deficiency
• Progressive familial intrahepatic cholestasis type 4
• Congenital bile acid synthesis defect type 2
• Delta(4)-3-oxysterol 5-beta-reductase deficiency
• Congenital bile acid synthesis defect type 3
• Oxysterol 7-alpha-hydroxylase deficiency
• Congenital bile acid synthesis defect type 4
• AMACR deficiency
• Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy
• Alpha-methyl-acyl-CoA racemase deficiency

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