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Metabolic Storage Diseases


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Metabolic storage diseases are inherited conditions caused by genetic mutations (changes) in normal cells that disrupt metabolism. Metabolism is how the body makes and uses energy from proteins, carbohydrates, and fats.

The liver synthesizes and stores vitamins, minerals, and glycogen (sugar) from food, which are released into the bloodstream as needed. Metabolic storage diseases affect the storage process, causing problems in the liver and other body systems that rely on the liver to do its job.

Some of the metabolic storage diseases we treat include:

  • Hemochromatosis (also called iron overload): causes the body to absorb too much iron. Iron overload can lead to liver disease, liver failure, heart failure, and diabetes.
  • Wilson’s disease: causes the body to absorb too much copper. Copper poisoning can lead to liver failure, brain damage, eye damage, and death.
  • Alpha-1 antitrypsin deficiency (alpha-1): causes the body to produce wrong shaped proteins that stick in the liver. Alpha-1 can cause liver disease like cirrhosis (irreversible scarring) and chronic obstructive pulmonary disease (COPD).

Hepatologists (liver specialists) at the University of Miami Health System are experts at managing complex metabolic storage diseases that affect the liver.


Lab Tests
Blood tests can detect metabolic storage disorders. Some of the blood and urine tests for liver diseases include liver function studies, cellular blood counts, electrolytes, and autoimmune antibodies.


Chelation Therapy
Chelation therapy treats heavy metal poisoning by using synthetic or chemical substances to remove iron, copper, and lead from the body. Chelating agents bind to the metals for safe elimination through the kidneys.

Lifestyle and Dietary Changes
If you drink alcohol, quitting can help reduce further liver damage. Your doctor may also recommend dietary changes or nutritional counseling to help you identify the best (and worst) foods to help improve your symptoms and keep your liver healthy.

Phlebotomy Therapy
This therapy removes blood with excess iron through an IV (small tube inserted in the vein). The first stage of treatment removes a pint of blood once or twice a week until iron levels return to normal. The second stage removes a pint every few months to maintain normal levels.

Treatment for Liver Diseases
If you have liver disease caused by a metabolic storage disorder, we offer a wide range of treatments, including condition management, hepatobiliary surgery, interventional radiology techniques, and liver transplant.

Why Choose UHealth?

Collaboration with experts in other medical fields. We work closely with other specialists you might see, such as hematologists, geneticists, pulmonologists, endocrinologists, and neurologists, to ensure you get the most effective care possible.

Special expertise in related conditions. Our liver specialists and care teams treat metabolic storage diseases and have special expertise in related conditions, including liver cancer and cirrhosis. We can predict problems before they happen and, if necessary, begin treatment right away.

Seamless services from providers who care about you. Our hepatology teams provide treatment in the hospital or outpatient (clinic) offices in South Florida. We’re here for all your needs.

Questions? We're here to help.

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