Everything about Hereditary Coproporphyria totally explained
Hereditary coproporphyria (HCP) is a form of
hepatic porphyria associated with a deficiency of the enzyme
coproporphyrinogen III oxidase.
Hereditary coproporphyria (HCP) is an
autosomal dominant genetic disease that causes purple
urine,
photosensitivity, and attacks of
abdominal pain. Symptoms vary from mild to severe and can be regulated with diet and triggered with drug use.
Symptoms
Symptoms include reddish-purple urine, acute neurological problems (typically episodic
confusion and sensory changes), and attacks of acute abdominal/
nerve pain. Around 30% suffer photosensitive skin eruptions with nail involvement; these can lead to permanent scarring.
Triggers vary, but infections,
hormonal changes,
dieting, and the use of
alcohol and certain drugs such as
barbiturates and
birth control pills have all been implicated.
Function
The coproporphinogen oxidase gene is an enzyme expressed in
erythrocytes that converts coproporphyrinogen III to protoporphyrinogen IX.
Heme is made from porphyrin and when a mutation occurs, heme production is interrupted. This leads to an overabundance of porphyrin in the body, which then exits through urine/feces. The protein contains 323
amino acids.
Heredity
HCP is an autosomal disease, meaning it's carried in one of the
autosomes, or non-sex chromosomes
. There have been documented cases of both heterozygous and homozygous inheritance, with similar symptoms in each patient
.
Treatment
While there's no cure for this condition, there are preventative measures people can take to regulate symptoms. A diet high in carbohydrates, as well as avoidance of aggravating factors (such as alcohol and drug use) can prevent attacks
.
Further Information
Get more info on 'Hereditary Coproporphyria'.
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