What causes congenital porphyria?

Erythropoietic porphyria is caused by autosomal recessive inheritance of genes that encode abnormal uroporphyrinogen III synthase (UROS) enzyme protein. The resultant deficient activity of this enzyme leads to hemolytic anemia, cutaneous photosensitivity, and their complications.

What causes erythropoietic Protoporphyria?

Erythropoietic protoporphyria is caused by mutations in the FECH gene . In most cases, EPP is caused by mutations in the ferrochelatase (FECH) gene. Another type of protoporphyria caused by mutations in the delta-aminolevulinic acid synthase-2 (ALAS2) gene is known as X-linked protoporphyria (XLP).

Is porphyria congenital or acquired?

Porphyrias can be inherited or (rarely) acquired. With the exception of congenital erythropoietic porphyria (CEP), which is autosomal recessive, all other porphyrias are inherited as autosomal dominant disorders.

What compound is elevated in congenital erythropoietic porphyria?

How is congenital erythropoietic porphyria diagnosed? The diagnosis of CEP is confirmed by finding high levels of uroporphyrin 1 in urine, faeces and circulating red blood cells. Findings are: Raised urinary uroporphyrin I and coproporphyrin I.

Is there a cure for erythropoietic Protoporphyria?

What is the treatment for erythropoietic protoporphyria? There is no cure for EPP. Lifelong photosensitivity is the main problem. Once the pain has started, pain relief can be difficult to achieve.

Is erythropoietic porphyria genetic?

Congenital erythropoietic porphyria is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent.

How common is erythropoietic Protoporphyria?

They are the most common Porphyria in children. EPP is caused by a lack of the enzyme, ferrochelatase due to mutations in the FECH gene. Erythropoietic Protoporphyria affects males and females in equal numbers. It is estimated that the disorder occurs in about 1 in about 74,300 individuals.

What is erythropoietic porphyria?

Erythropoietic protoporphyria is one of a group of disorders known as the porphyrias. The porphyrias are all characterized by abnormally high levels of particular chemicals (porphyrins) in the body due to deficiencies of certain enzymes essential to the synthesis of hemoglobin.

How do you get porphyria?

Genetic forms Most forms of porphyria are inherited. Porphyria can occur if you inherit: A defective gene from one of your parents (autosomal dominant pattern) Defective genes from both parents (autosomal recessive pattern)

What is the life expectancy of someone with porphyria?

Patients with porphyria generally have a normal life expectancy. However, those with acute hepatic porphyria are at increased risk of developing high blood pressure, chronic kidney disease, and hepatocellular carcinoma (liver cancer), which may reduce their lifespan.

Can people with porphyria have kids?

Almost without exception, female patients with porphyria (of any sort) have normal pregnancies and deliver healthy babies without experiencing acute attacks. However, pregnancy is associated with increased levels of hormones such as progesterone which potentially may aggravate porphyria.

Is porphyria more common in ethnicity?

AIP can occur in individuals of all ethnic backgrounds, although it may be less frequently reported in African-American individuals. Women are affected by symptomatic AIP more often than men.

What part of the body does porphyria affect?

Porphyria occurs when the body cannot convert compounds called ‘porphyrins’ into heme. While all tissues have heme, those that use it the most are the red blood cells, liver and bone marrow. Porphyria can affect the skin, nervous system and gastrointestinal system. More women than men are affected by porphyria.

How many people have variegate porphyria?

Some reports suggest that variegate porphyria affects more women than men. The incidence is estimated to occur in 1 in 100,000 individuals in the general population in European populations.

What type of genetic mutation causes porphyria?

Each type of porphyria is caused by a mutation, or change, in the gene coding for a specific enzyme in the heme pathway. … Inheritance of the Porphyrias.

Type Porphyria Cutanea Tarda (PCT), familial form
Inheritance Autosomal dominant
Deficient Enzyme Uroporphyrinogen decarboxylase
Gene UROD

Is Protoporphyria recessive?

Erythropoietic protoporphyria (EPP) is inherited in an autosomal recessive manner.

Is being a vampire genetic?

Dana-Farber/Boston Children’s researchers and collaborators have identified a genetic mutation that may be responsible for vampire folklore. Summary: A newly discovered genetic mutation triggers erythropoietic protoporphyria (EPP).

What is Protoporphyria in cattle?

Bovine congenital erythropoietic protoporphyria is an uncommon genetic defect in Limousin and Blonde d’Aquitaine cattle that is characterized by severe photosensitization. Clinical signs include intense pruritus and exudative dermatitis involving the face, pinnae, and dorsal aspect of the thorax.

Is porphyria a royal disease?

The royal porphyria is porphyria variegata, which has an incidence in the general population of 1 in 100,000. It is due to a deficiency in the enzyme protoporphyrinogen oxidase (PPOX).

Can porphyria cause mental illness?

Acute intermittent porphyria mimics a variety of commonly occurring disorders and thus poses a diagnostic quagmire. Psychiatric manifestations include hysteria, anxiety, depression, phobias, psychosis, organic disorders, agitation, delirium, and altered consciousness ranging from somnolence to coma.

Where is porphyria most common?

Acute intermittent porphyria is the most common form of acute porphyria in most countries. It may occur more frequently in northern European countries, such as Sweden, and in the United Kingdom. Another form of the disorder, hereditary coproporphyria, has been reported mostly in Europe and North America.

What EPP feels like?

Clinically, EPP is characterized by cutaneous photosensitivity manifesting early in life. Acute photosensitivity episodes include burning, stinging, and pruritus in sun-exposed skin, particularly on the nose, cheeks, and dorsal aspects of the hands, followed by erythema, edema, and wax-like scarring.

What is the vampire disease?

Porphyria cutanea tarda (PCT) is a type of porphyria or blood disorder that affects the skin. PCT is one of the most common types of porphyria. It’s sometimes referred to colloquially as vampire disease. That’s because people with this condition often experience symptoms following exposure to sunlight.

What are two conditions that cause polycythemia?

What are the risk factors for polycythemia?

How do you pronounce erythropoietic?

What is hepatic porphyria?

[1][2] Hepatic porphyrias are those in which the enzyme deficiency occurs in the liver. Hepatic porphyrias include acute intermittent porphyria (AIP), variegate porphyria (VP), aminolevulinic acid dehydratase deficiency porphyria (ALAD), hereditary coproporphyria (HCP), and porphyria cutanea tarda (PCT).

What foods should be avoided with porphyria?

People with porphyria are advised to maintain a diet with an average or higher-than-average intake of carbohydrates, which can lessen disease activitybut they are also advised to avoid refined sugars, corn syrup and heavily processed foods.

Is Porphobilinogen a porphyrin?

Porphobilinogen (PBG), a porphyrin precursor, in urine. Delta-aminolevulinic acid (ALA), another porphyrin precursor, in urine.

What is porphyrin ring?

A porphyrin is a large ring molecule consisting of 4 pyrroles, which are smaller rings made from 4 carbons and 1 nitrogen. These pyrrole molecules are connected together through a series of single and double bonds which forms the molecule into a large ring. … The model of a general porphyrin is called porphin.