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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)

• plasma
  •      prothrombin time
• serum
  •      total alkaline phosphatase
  •      aspartate aminotransferase
  •      direct bilirubin
  •      cholesterol
  •      calcidiol
  •      alanine aminotransferase
  •      bilirubin
  •      liver alkaline phosphatase
  •      heat-stable alkaline phosphatase
  •      leucine aminopeptidase
  •      indirect bilirubin
• urine
  •      bilirubin
  •      urobilinogen
• whole blood
  •      acanthocytes

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: