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What is Bile acid synthesis defects, congenital, 1?

What is Bile acid synthesis defects, congenital, 1?

  • Bile acid synthesis defects, congenital, 1: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (3-beta-hydroxy-delta-5-C27-steroid oxidoreductase) needed to make bile acid.

Bile acid synthesis defects, congenital, 1: Introduction

Types of Bile acid synthesis defects, congenital, 1:

Broader types of Bile acid synthesis defects, congenital, 1:

What causes Bile acid synthesis defects, congenital, 1?

Causes of Bile acid synthesis defects, congenital, 1: see causes of Bile acid synthesis defects, congenital, 1

What are the symptoms of Bile acid synthesis defects, congenital, 1?

Symptoms of Bile acid synthesis defects, congenital, 1: see symptoms of Bile acid synthesis defects, congenital, 1

Bile acid synthesis defects, congenital, 1: Testing

Diagnostic testing: see tests for Bile acid synthesis defects, congenital, 1.

Misdiagnosis: see misdiagnosis and Bile acid synthesis defects, congenital, 1.

How is it treated?

Doctors and Medical Specialists for Bile acid synthesis defects, congenital, 1: Medical Geneticist ; see also doctors and medical specialists for Bile acid synthesis defects, congenital, 1.
Treatments for Bile acid synthesis defects, congenital, 1: see treatments for Bile acid synthesis defects, congenital, 1

Name and Aliases of Bile acid synthesis defects, congenital, 1

Main name of condition: Bile acid synthesis defects, congenital, 1

Other names or spellings for Bile acid synthesis defects, congenital, 1:

CBAS1, 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of, Bile acid synthesis defect, congenital, 1

 

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