Pediatric metabolic liver disease

What is pediatric 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. 

What are the different types of pediatric metabolic liver diseases?

• Crigler-Najjar syndrome
• Dubin-Johnson syndrome
• Gilbert’s disease
• Hemochromatosis
• Wilson disease

What are the signs and symptoms of a pediatric 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 pediatric 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 discuss with you exactly what the next steps are.

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