Metabolic liver disease is a group of metabolic disorders that cause the liver to lose function or fail. They affect pathways in the liver cells that help us break down, absorb, process, transport, and store nutrients like amino acids, carbohydrates and fats.
- Each metabolic liver disorder has its own genetic cause and some metabolic disorders have more than one abnormal gene that causes the disorder.
- Metabolic liver disease occurs when a pathway in the liver has a “block,” or is missing a step it needs to break down a nutrient. This missing step is caused by an abnormal gene. When this occurs, a toxic substance builds up, there is a failure to produce cellular energy, or both. This process damages liver cells and eventually damages the liver, which leads to reduced liver function.
- Severe itching
- Jaundice (yellow eyes and skin)
- Difficulty gaining weight
- Low blood sugar
- Fat-soluble vitamin deficiencies
- Liver scarring
- Unexplained swelling, bruising or bleeding
- Abdominal pain or fullness