Bile acid synthesis defect with cholestasis (Q40066): Difference between revisions
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As anomalias da síntese do ácido biliar são um grupo de distúrbios do metabolismo do esterol devido a deficiências enzimáticas da síntese do ácido biliar em bebês, crianças e adultos, com manifestações variáveis que incluem colestase, doença neurológica e má absorção de gordura.Oito erros inatos foram identificados, 7 dos quais levam à colestase hepática e incluem: deficiência de oxidoredutase de 3-beta-hidroxi-C27-esteróide (tipo 1), deficiência de delta4-3-oxosteriode-5-beta redutase (tipo 2), deficiência de oxisterol 7alfa-hidroxilase (tipo 3), deficiência de 2-metilacil-CoA racemase (tipo 4), deficiência de ácido biliar CoA ligase e xantomatose cerebrotendínea. A deficiência de colesterol 7alfa-hidroxilase leva à hipercolesterolemia sem colestase hepática. | |||
| description / en | description / en | ||
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. | |||
Revision as of 05:43, 13 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C52.11 |
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| English | Bile acid synthesis defect with cholestasis |
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. |
