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What is Bile acid synthesis defects, congenital, 2?

What is Bile acid synthesis defects, congenital, 2?

  • Bile acid synthesis defects, congenital, 2: 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 (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.

Bile acid synthesis defects, congenital, 2: Introduction

Types of Bile acid synthesis defects, congenital, 2:

Broader types of Bile acid synthesis defects, congenital, 2:

How serious is Bile acid synthesis defects, congenital, 2?

Complications of Bile acid synthesis defects, congenital, 2: see complications of Bile acid synthesis defects, congenital, 2

What causes Bile acid synthesis defects, congenital, 2?

Causes of Bile acid synthesis defects, congenital, 2: see causes of Bile acid synthesis defects, congenital, 2

What are the symptoms of Bile acid synthesis defects, congenital, 2?

Symptoms of Bile acid synthesis defects, congenital, 2: see symptoms of Bile acid synthesis defects, congenital, 2

Complications of Bile acid synthesis defects, congenital, 2: see complications of Bile acid synthesis defects, congenital, 2

Bile acid synthesis defects, congenital, 2: Testing

Diagnostic testing: see tests for Bile acid synthesis defects, congenital, 2.

Misdiagnosis: see misdiagnosis and Bile acid synthesis defects, congenital, 2.

How is it treated?

Doctors and Medical Specialists for Bile acid synthesis defects, congenital, 2: Medical Geneticist ; see also doctors and medical specialists for Bile acid synthesis defects, congenital, 2.
Treatments for Bile acid synthesis defects, congenital, 2: see treatments for Bile acid synthesis defects, congenital, 2

Name and Aliases of Bile acid synthesis defects, congenital, 2

Main name of condition: Bile acid synthesis defects, congenital, 2

Other names or spellings for Bile acid synthesis defects, congenital, 2:

CBAS2, cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency

 

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