Metabolic Diseases and Conditions We Treat

Metabolic diseases may call for a liver transplant to:

  • Ease concerns and improve quality of life.
  • Replace a failing liver.
  • Cure the disease.

Learn more below about some of the metabolic diseases that may benefit from a liver transplant:

Alpha-I Antitrypsin Deficiency (AATD)

Alpha-I antitrypsin (AAT) is a protein the liver produces that protects the lungs.

A deficiency can harm the body in two ways:

  1. If the liver doesn’t produce enough AAT, the lungs are more susceptible to disease.
  2. If the liver produces abnormally formed AAT, the shape of the AAT can prevent it from moving into the bloodstream. The shape can also cause it to build up in the liver, causing scarring (cirrhosis) or other forms of liver disease.

Crigler-Najjar Syndrome I

In Crigler-Najjar syndrome I, the liver lacks an enzyme that allows it to process bilirubin. Bilirubin builds up, enters the bloodstream, and begins to accumulate in other organs — such as the eyes and skin.

This causes jaundice and may eventually cause nerve and brain damage.

Cystic Fibrosis (CF)

Cystic fibrosis affects the way salt and water move in and out of cells, causing secretions to be thicker and more viscous.

This can make it hard for bile to flow out of the liver. A back up of bile can cause liver problems, such as cirrhosis.

Familial Cholestasis

In familial cholestasis, the liver can't drain bile — even though the bile ducts are open. Bile helps digest fat and remove toxins from of the body.

This leads to scarring of the liver, liver failure, and often, severe itching.

Glycogen Storage Disease

In children with glycogen storage disease, enzymes that help convert blood sugar to glycogen (to store it) are defective, deficient, or absent.

This causes the buildup of abnormal amounts and types of glycogen in the liver and/or muscle tissues. In some cases, it may lead to cirrhosis and liver failure.

Maple Syrup Urine Disease (MSUD)

In Maple Syrup Urine Disease (MSUD), certain proteins aren't able to break down important amino acids in food. High levels of these acids — and their byproducts in the body — can cause damage to the brain and other organs.

MSUD has a constant risk of metabolic crisis and requires regular medical monitoring. Liver transplant can completely and permanently restore metabolic functioning.

Neonatal Hemochromatosis

Hemochromatosis is an extremely rare genetic disorder in which the body absorbs and stores too much iron. The neonatal form of the disease causes severe damage to the liver in the form of hepatitis.

Neonatal hemochromatosis often progresses so quickly that babies either die in the womb, are stillborn, or do not survive their first week of birth.


In primary hyperoxaluria, the liver is unable to make a protein that prevents a chemical — called oxalate— from building up in the urine. High amounts of oxalate in the urine can lead to a condition called oxalosis.

This causes oxalate to spread to eyes, bones, skins, muscles, the heart, and other organs, causing severe damage.


In tyrosenemia, the body lacks an enzyme that lets it effectively break down proteins.

This causes proteins to build up in the liver and other organs, becoming toxic, and can lead to severe liver disease.

Urea Cycle Disorders

In a urea cycle disorder, the body produces insufficient amounts of one or more enzymes responsible for converting nitrogen to urea and removing it from the body.

Instead, nitrogen accumulates in the blood in the form of ammonia. Sufficient accumulation of ammonia in the blood stream can reach the brain and cause irreversible damage.

Wilson’s Disease

In Wilson’s disease, the liver is unable to filter copper, causing it to build up in the liver, brain, eyes, and other organs.

This can cause life-threatening damage, and psychiatric and neuromuscular symptoms.

Have questions or want to make an appointment?

Contact the Pediatric Liver Transplant Program at Children's to discuss your child’s metabolic disease at 412-692-6110.