What is metabolic liver disease?
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.
What causes metabolic liver disease?
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.
Who gets metabolic liver disease?
Metabolic liver disease is genetic, meaning that one or both parents pass a copy of an abnormal gene down to children. The disease can affect babies, children and even adults.
What are the signs and symptoms of metabolic liver disease?
Children with metabolic liver disease can have a variety of symptoms, many of which are caused by liver damage. Signs and symptoms of metabolic liver disease in children can include:
- 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
What tests are used to diagnose metabolic liver disease?
We diagnose metabolic liver disease by testing your child’s blood and urine. Your child’s doctor may also use abdominal imaging or a liver biopsy to help guide the diagnosis. We perform a genetic test to confirm the diagnosis of metabolic liver disease.
What can I expect from the tests that help diagnose metabolic liver disease?
Your child’s doctor uses imaging tests such as an ultrasound, CT scan or MRI to examine the abdomen.
To perform genetic testing for metabolic liver disease, we take a blood sample and send it to a national laboratory that we partner with for analysis. The lab may take 6 to 8 weeks to report the results.
Your child’s doctor may also request a liver biopsy to help gauge the level of liver damage. The biopsy is usually an outpatient procedure and your child can go home the same day. The surgeon removes a small piece of the liver and sends it to our pathology department for testing.
How do we diagnose metabolic liver disease?
We look at several tests to diagnose metabolic liver disease including a review of your child’s medical history, clinical signs and symptoms and biochemical laboratory findings. We then confirm the diagnosis with genetic testing.
How is metabolic liver disease treated?
Managing metabolic liver disease varies widely based on the underlying cause. Your child’s treatment can include:
- Eating a specific diet
- Using special medication or dietary supplements
- Restricting intake of certain nutrients
- Avoiding fasting
- Liver transplantation in serious cases
Why choose us for treatment of metabolic liver disease?
Our Pediatric Liver Center is one of the largest in the country. We provide a fast, targeted approach to accurately diagnose causes of metabolic liver disease, working with our inherited metabolic diseases experts.
The Pediatric Liver Center is at the forefront of caring for children with metabolic liver disease. We collaborate with our Inherited Metabolic Disease team to spearhead research at the national level. This research helps us understand how metabolic liver diseases progress and what we might due to slow down progression. We also offer treatment trials with the goal of lessening symptoms and protecting the liver from ongoing damage.
MedlinePlus is an online health information resource for patients and their families and friends. Search for conditions related to metabolic liver disease, such as glycogen storage disease, fatty acid oxidation, organic acidemia, galactosemia or hereditary fructose intolerance.
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