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Pediatric Metabolic Liver Disease


What is metabolic liver disease?

Metabolic liver disease is a disorder in which abnormal chemical reactions in the body disrupt the body’s metabolism. When this happens, the body has too much of some substances or too little of others to stay healthy. 

Is metabolic liver disease genetic?

As metabolic liver disease is genetic, you child will not outgrow his disorder. But the condition can improve with age with optimal care and treatment.

What are the types of metabolic liver disease?

There are several kinds of metabolic liver disease in children, including:

What are the symptoms of metabolic liver disease?

Symptoms of metabolic liver disease will vary based on the type of disease, but may include:

  • Bruising easily
  • Confusion
  • Fatigue
  • Jaundice (yellowing of the skin and eyes)
  • Pain or swelling in the upper right abdomen

How is metabolic liver disease diagnosed?

There are a few tests to diagnose metabolic liver disease in children. A doctor will go over your child's medical history and perform a physical exam. Your healthcare provider may also perform one or more of the following tests:

  • Blood tests
  • Liver biopsy

Not every child needs all tests. Your physician will tell you exactly what the next steps are.

How is metabolic liver disease treated?

The type of metabolic liver disease will determine your child's treatment. Your healthcare provider may recommend one or more of the following treatments:

  • Dietary changes to decrease the amount of certain substances being ingested (such as iron and copper)
  • Medications to release excess substances from the organs into the bloodstream so that they can be eliminated
  • Phlebotomy (drawing blood) to remove excess substances from the blood
  • Phototherapy to reduce the amount of bilirubin in the body
  • Liver transplant

Our Program

Children's Health is home to the internationally recognized Hepatology and Liver Transplantation Program. We produce research and conduct clinical studies into acute liver failure, viral hepatitis and chronic liver diseases. Our program also teams with the Solid Organ Transplant program for liver transplants.

Using a multidisciplinary approach to caring for your child allows us to offer our patients care from multiple specialists and experts, in a single appointment, at one location. We provide the comprehensive and individualized care necessary to put your child back on the path to a healthy life.


For more information on metabolic liver disease, refer to the following resources:​

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