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Hereditary Coproporphyria

Abstract

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NORD is very grateful to Peter Tishler, MD, Department of Medicine, Brigham and Women's Hospital, Channing Laboratory, for assistance in the preparation of this report.

Synonyms of Hereditary Coproporphyria

  • HCP

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Hereditary coproporphyria (HCP) is a rare metabolic disorder characterized by deficiency of the enzyme coproporphyrinogen oxidase. This enzyme deficiency results in the accumulation of porphyrin precursors in the body. This enzyme deficiency is caused by a mutation in the CPOX gene. However, the deficiency by itself is not sufficient to produce symptoms of the disease and most individuals with a CPOX gene mutation do not develop symptoms of HCP. Additional factors such as endocrine factors (e.g. hormonal changes), the use of certain drugs, excess alcohol consumption, infections, and fasting or dietary changes are required to trigger the appearance of symptoms. Some affected individuals experience acute attacks or episodes that develop over a period of days. The course and severity of attacks is highly variable from one person to another. In some cases, particularly those without proper diagnosis and treatment, the disorder can cause life-threatening complications. The CPOX mutation is inherited as an autosomal dominant trait.

Introduction
HCP belongs to a group of disorders known as the porphyrias. This group is characterized by abnormally high levels of porphyrin precursors and, in many cases, porphyrins, due to deficiency of certain enzymes essential to the creation (synthesis) of heme, a part of hemoglobin and other hemoproteins. There are eight enzymes in the pathway for making heme and at least eight major forms of porphyria. The symptoms associated with the various forms of porphyria differ. It is important to note that people who have one type of porphyria do not develop any of the other types. Porphyrias are generally classified into two groups: the hepatic and erythropoietic types. Porphyrins and porphyrin precursors and related substances originate in excess amounts predominantly from the liver in the hepatic types and mostly from the bone marrow in the erythropoietic types. Porphyrias with skin manifestations are sometimes referred to as cutaneous porphyrias. The term acute porphyria is used to describe porphyrias that can be associated with sudden attacks of pain and other neurological symptoms. Most forms of porphyria are genetic inborn errors of metabolism. HCP is an acute, hepatic form of porphyria.

Hereditary Coproporphyria Resources

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