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Congenital erythropoietic porphyria – causes, side effects and treatments at

Thursday, February 22, 2018 by

Congenital erythropoietic porphyria — also called Gunther’s disease — comprises of at least eight different conditions that are a result of a buildup of the chemical porphyrin. This is due to the inheritance of two mutant alleles for the gene encoding the enzyme uroporphyrinogen III synthase (UROS).

It is a sporadic metabolic disorder. People with congenital erythropoietic porphyria don’t have enough of the enzymes needed to make heme, the iron-containing pigment that binds oxygen onto red blood cells and is contained in the bone marrow, the liver, and the red blood cells.

Acute congenital erythropoietic porphyria causes incredible amounts of pain and neurological effects that emerge rapidly. Illnesses of this kind include acute intermittent porphyria, ALAD-deficiency porphyria, variegate porphyria, and hereditary coproporphyria.

Porphyrias affect only around less than 200,000 people in the United States. Globally, it affects only around one in two million people. It is usually more prevalent in children and infants than in adults. Since it is an inherited disorder, a risk factor for the disease is a family history of congenital erythropoietic porphyria.

Mutations in UROS gene are inherited in an autosomal recessive manner; meaning, an individual must have both copies of the causative gene for the condition to manifest itself.

Congenital erythropoietic porphyria was first described by German researcher Hans Friedrich Karl Gunther, which is why its other moniker is as it is.

Known side effects of congenital erythropoietic porphyria

In patients with congenital erythropoietic porphyria, the lack of heme coincides with porphyrins’ elevation in mature red blood cells, bones, feces, plasma, and teeth. These porphyrins then cause hemolytic anemia and photosensitivity.

Due to this, the teeth, bones, and urine of patients contain too many porphyrins and are often colored red or brown.

Congenital erythropoietic porphyria is bad for the skin. It causes blisters, scarring, and increased hair growth on the hands or the face (hypertrichosis). The affected skin may house bacteria, and fingers can be prone to infection. The skin can also be prone to weakening and becoming fragile, with its pigmentation changing over time.

Body systems harmed by congenital erythropoietic porphyria

Congenital erythropoietic porphyria is bad for the skeletal system. It can cause damage to the bones and cartilage. It may also result in an enlarged spleen.

Congenital erythropoietic porphyria is bad for the optic system. It can cause eyes to be inflamed and develop corneal rupture.

Food items or nutrients that may prevent congenital erythropoietic porphyria

Food items that can help alleviate the symptoms of congenital erythropoietic porphyria include unprocessed carbohydrates such as grains, beans or legumes, fresh fruit, and fresh vegetables; healthy fats that are found in coconut oil, olive oil, nuts, seeds, and avocado; and antioxidants such as orange and yellow fruits and vegetables.

Treatment, management plans for congenital erythropoietic porphyria

A physician usually diagnoses this genetic disorder by testing the blood or other bodily fluids of the patient to determine gene mutations that may have caused the condition. Treatment usually includes blood transfusions or a bone marrow transplant.

Where to learn more


The teeth, bones, and urine of patients with congenital erythropoietic porphyria contain too many porphyrins and are often colored red or brown.

Congenital erythropoietic porphyria is bad for the skeletal and optic systems.

Congenital erythropoietic porphyria can cause an enlarged spleen.

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