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Learn About Hereditary Coproporphyria

What is the definition of Hereditary Coproporphyria?
Hereditary coproporphyria (HCP) is a rare inherited form of liver (hepatic) porphyria, characterized by neurological symptoms in the form of episodes (acute attacks) of stomach pain, nausea, vomiting, weakness, numbness, and pain in the hands and feet (neuropathy). The porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body's organs. Symptoms present during the attacks may include body pain, nausea and vomiting, increased heart rate (tachycardia), and high blood pressure. Less common symptoms include seizures, skin lesions, and paralysis of the arms and legs, body trunk, and respiratory muscles. Most individuals with HCP do not have any signs or symptoms between attacks. HCP is caused by genetic changes in the CPOX gene and is inherited in an autosomal dominant manner. Diagnosis is based on the symptoms and specific blood, urine and stool testing.
What are the alternative names for Hereditary Coproporphyria?
  • Hereditary coproporphyria
  • CPO deficiency
  • CPRO deficiency
  • CPX deficiency
  • Coproporphyria
  • Coproporphyria hereditary
  • Coproporphyrinogen oxidase deficiency
  • HCP
  • Hereditary coproporphyria porphyria
  • Porphyria hepatica II
  • Porphyria hepatica coproporphyria
Who are the top Hereditary Coproporphyria Local Doctors?
Elite in Hereditary Coproporphyria
Medical Genetics | Pediatrics
Elite in Hereditary Coproporphyria
Medical Genetics | Pediatrics
1 Gustave L Levy Pl, Box 1498, 
New York, NY 
Languages Spoken:
English

Robert Desnick is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Desnick is rated as an Elite provider by MediFind in the treatment of Hereditary Coproporphyria. His top areas of expertise are Hereditary Coproporphyria, Fabry Disease, Aplasia Cutis Congenita, and Ectodermal Dysplasias.

Elite in Hereditary Coproporphyria
Elite in Hereditary Coproporphyria
Beersheba, D, IL 

Yonatan Edel practices in Beersheba, Israel. Mr. Edel is rated as an Elite expert by MediFind in the treatment of Hereditary Coproporphyria. His top areas of expertise are Hereditary Coproporphyria, Variegate Porphyria, Porphyria, and Acute Intermittent Porphyria.

 
 
 
 
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Elite in Hereditary Coproporphyria
Elite in Hereditary Coproporphyria
London, ENG, GB 

Penelope Stein practices in London, United Kingdom. Ms. Stein is rated as an Elite expert by MediFind in the treatment of Hereditary Coproporphyria. Her top areas of expertise are Acute Intermittent Porphyria, Porphyria, Hereditary Coproporphyria, and Acute Hepatic Porphyria (AHP).

What are the latest Hereditary Coproporphyria Clinical Trials?
Longitudinal Study of the Porphyrias

Summary: The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the human porphyrias including the natural history, morbidity, pregnancy outcomes, and mortality in people with these disorders.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center