Harderoporphyria

Harderoporphyria is a rare type of porphyria, a group of diseases that involve abnormalities in the production of heme, a component of hemoglobin. Harderoporphyria is caused by mutations in the CPOX gene and is inherited in an autosomal recessive manner.

Symptoms

The symptoms of harderoporphyria can vary widely among affected individuals. They can include anemia, jaundice, photosensitivity, and gallstones. In severe cases, the disease can lead to liver failure.

Causes

Harderoporphyria is caused by mutations in the CPOX gene. This gene provides instructions for making an enzyme called coproporphyrinogen oxidase, which is involved in the production of heme. Mutations in the CPOX gene reduce the activity of this enzyme, leading to a buildup of certain chemicals called porphyrins in the body. This buildup can cause the symptoms of harderoporphyria.

Diagnosis

The diagnosis of harderoporphyria is based on a combination of clinical symptoms and laboratory tests. These tests can include blood tests, urine tests, and genetic testing to identify mutations in the CPOX gene.

Treatment

There is currently no cure for harderoporphyria. Treatment is focused on managing symptoms and preventing complications. This can include avoiding sunlight, taking medications to reduce the levels of porphyrins in the body, and in severe cases, a liver transplant may be considered.

See also

• Porphyria
• CPOX
• Heme
• Hemoglobin
• Autosomal recessive

Harderoporphyria Resources
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