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Congenital bile acid synthesis defect type 4

Disease definition

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

ORPHA:79095

  • Synonym(s):
    • 2-methylacyl-CoA racemase deficiency
    • AMACR deficiency
    • Alpha-methyl-acyl-CoA racemase deficiency
    • Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: K76.8
  • OMIM: 214950  614307
  • UMLS: C1858328  C3280428
  • MeSH: C535444
  • GARD: -
  • MedDRA: -

Additional information

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