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Disease or Condition — Digestive Disorders:
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency

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Description

Type 1 congenital bile acid synthesis defect is a rare inherited disorder that affects the body's ability to produce bile acids. Bile acids are essential for the digestion and absorption of fats and fat-soluble vitamins. People with this disorder have a deficiency of the enzyme 7α-hydroxylase, which is responsible for the production of bile acids. Symptoms of this disorder include poor growth, jaundice, and an increased risk of developing liver disease. Treatment typically involves dietary modifications and supplementation with bile acids.

Synonyms
  • 27-3-beta-HSD
  • CBAS1
  • PFIC4
  • Type 1 congenital bile acid synthesis defect
  • Type 4 progressive familial intrahepatic cholestasis
Basic Lab Tests (measurements)

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
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