As the name implies, congenital liver defects are those that are present at birth. These defects affect the flow of bile, disrupting the function of the liver. Alpha-1 antitrypsin deficiency is a genetic disorder that may lead to liver and/or lung disease. It is a common cause of liver disease in children.

Symptoms
Diagnosis
Treatment


Symptoms
Symptoms of a chronic liver defect include:

• Jaundice, a yellowing of the skin and eyes
• Urine that is darker than normal
• Stool that is paler than normal

Diagnosing congenital liver defects
Normally, congenital liver defects are diagnosed shortly after birth. We will ask about your child’s medical history and symptoms. He or she will have a physical exam and may have additional tests:

• Assorted laboratory tests
• Blood tests to see if the liver is functioning properly
• Liver biopsy

Treating congenital liver defects
Treatment may include surgery to repair the bile ducts so bile flows normally. In some cases, a liver transplant may be necessary.