Rare Disease

Acute Hepatic Porphyria (AHP)

Acute Hepatic Porphyria is a family of rare genetic diseases characterized by potentially life-threatening attacks and chronic pain that interfere in their ability to live normal lives.

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Gilbert Syndrome

Gilbert Syndrome is a mild genetic disorder in which the liver does not properly process a substance called bilirubin. Bilirubin is made by the break down of red blood cells.

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Hemochromatosis is an inherited condition in which the body absorbs and stores too much iron that builds up in several organs, especially the liver, and can cause serious damage.

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Lysosomal Acid Lipase Deficiency (LALD)

Lysosomal acid lipase deficiency affects the body’s ability to produce this enzyme needed to breakdown fat and cholesterol. When LAL is missing, fats accumulate and lead to liver and heart disease.

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Wilson Disease

Wilson Disease causes the body to retain excess copper. The liver of a person who has Wilson Disease does not release copper into bile as it should.

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Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (Alpha-1) is the most common genetic cause of liver disease in children. Adults can also be affected by Alpha-1 and may develop lung conditions such as emphysema, as well as other liver problems.

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