Hereditary Coproporphyria

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Hereditary Coproporphyria

Hereditary Coproporphyria

Hereditary Coproporphyria is caused by a deficiency of the coproporphyrinogen oxidase enzyme. The CPOX gene provides the instructions for the construction of coproporphyrinogen oxidase enzyme. The enzyme produces the heme molecule, which is used in the body's organs, mainly the blood, bone marrow and liver. Heme is an essential component of iron containing proteins. Hemogloban is an example of a iron containing protein. Its function is to carry oxygen in the blood. When hemogloban levels are low the person becomes anemic.

This is a autosomal dominant disorder

A diagnosis for coproporphyria has been identified by plasma fluorescence scanning, fecal porphyrin analysis (looking at the porphyrin levels in the stool) and porphobilinogen deaminase, High coproporphyrin type III levels are elevated in hereditary coproporphyria patients.

Common medical conditions of Coproporphyria patients are: vomiting, diarrhea, seizures, skin manafestations, coma, (blisters from extended sun exposure)

During an attack glucose or carbohydrates are administered. Panhematin is a long term perscription for patients with severe recurrent attacks. Narcotics are used to control pain, and gabapentin is used to control seizures. Intravenous hemin (as heme arginate or hematin) is a common recommended therapy.

Coproporphyria patients endure the following symptoms in acute attacks: abdominal pain, nausea, hysteria, tachycardia, hypertension, constapation and cortical blindness

Mutation on long arm of chromosome three posistion 12

Coproporphyrin III

About 1 in 20,000 people in the United states are affected by this disorder.


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