Pediatric metabolic liver disease

What is pediatric metabolic liver disease?

Metabolic liver disease is a group of conditions that damage the liver or cause it to fail. These conditions affect pathways in the liver cells that help the body process, absorb, transport and store nutrients such as carbohydrates and fats.

Metabolic liver diseases happen when genetic changes affect how the liver processes nutrients. When the liver can’t break down nutrients, toxins can build up in liver cells. This buildup damages liver cells and prevents the liver from working right. The process can lead to liver damage or failure.

What are the different types of pediatric metabolic liver disease?

The types of metabolic liver disease have different genetic causes, and they each affect the liver in different ways.

Crigler-Najjar syndrome

Crigler-Najjar syndrome is a rare metabolic liver disease that occurs when the liver can’t break down bilirubin. As a result, this toxic substance (a by-product of the normal breakdown of red blood cells) builds up in the blood.

Dubin-Johnson syndrome

Also rare, Dubin-Johnson syndrome is a metabolic liver disorder that also involves bilirubin. The liver usually releases bilirubin into the bile, where it goes to the intestines and leaves the body through the stool (poop). With Dubin-Johnson syndrome, excess bilirubin builds up in the skin and whites of the eyes (jaundice).

Gilbert syndrome

Gilbert syndrome is a mild metabolic liver disorder in which a missing enzyme prevents the liver from breaking down bilirubin.

Juvenile hemochromatosis

Juvenile hemochromatosis is a rare genetic disease that causes iron to build up in organs such as the liver, heart, pancreas and reproductive organs. The excess iron can damage these organs and prevent them from working as they should.

Wilson disease

This disorder causes copper to build up in the liver and other organs, including the kidneys and brain. Wilson disease is treatable, especially when diagnosed early. Most children can live long, healthy lives with proper treatment.

What are the signs and symptoms of pediatric metabolic liver disease?

Metabolic liver diseases cause a variety of symptoms, depending on the specific disorder. Some common signs among metabolic liver diseases include:

• Jaundice (yellow color of the skin or eyes)

• Bruising for no known reason

• Tiredness

• Pain and swelling in the upper right belly (abdomen)

• Confusion

• Low blood sugar

• Liver scarring, which can lead to liver failure

• Problems gaining weight (failure to thrive)

How is pediatric metabolic liver disease diagnosed?

If your child has signs and symptoms of metabolic liver disease, our specialists in digestive disorders and liver diseases do a complete evaluation. We start with a complete physical exam, and we ask you about your child’s symptoms and medical history.

We usually need to do tests to confirm a diagnosis of metabolic liver disease. Your child might need to have one or more tests, such as:

• Blood and urine tests: We take small samples of your child’s blood and urine (pee) to test. These tests measure the levels of bilirubin and other substances for signs of metabolic liver disease.

• Liver biopsy: We insert a long, thin needle through your child’s skin and into their liver. We draw a tiny sample of tissue through the needle to send to the lab for testing. A doctor examines the tissue under a microscope for signs of disease.

• Imaging: Ultrasound (sonogram), computedtomography (CT) scans and magnetic resonance imaging (MRI) show details of your child’s liver. We use these imaging studies to help determine what type of metabolic liver disease your child has.

• Genetic testing: Pediatric geneticists at Children’s Health offer testing that can find the genetic changes that cause many types of metabolic liver disease.

What causes pediatric metabolic liver disease?

Metabolic liver diseases are genetic conditions that someone is born with. Each type of metabolic liver disease results from one or more gene mutations (changes). Children inherit the gene mutations from one or both parents.

How is pediatric metabolic liver disease treated?

With the right care, children with metabolic liver diseases can live long and healthy lives. At Children’s Health, your child receives care from some of the top liver and digestive disease specialists in the country. Your child’s care team includes doctors, surgeons and providers from several fields of medicine. We work together to personalize a plan of treatment that helps your child grow up as healthy as possible.

Treatment options for metabolic liver disease vary, based on the type and cause of the disease. Your child may benefit from one or more treatments, including:

• Changes to their diet: Our registered dietitians work with you to create a healthy eating plan for your child. We’ll include foods that reduce specific substances, such as iron or copper, that the liver has to process.

• Medications: We may prescribe medicines that help remove excess iron, copper or other substances from the organs and bloodstream.

• Phlebotomy (blood draw): Taking small amounts of your child’s blood can help lower the levels of extra substances.

• Phototherapy: Sitting under a special light can help reduce the amount of bilirubin in the body.

• Liver transplant: An organ transplant replaces a damaged or failing liver with a healthy whole or partial liver from a donor.