What is erythropoietic Protoporphyria?

What is erythropoietic Protoporphyria?

Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase (FECH), which results from changes (mutations) in the FECH gene.

Is there a cure for erythropoietic Protoporphyria?

EPP is the third most common porphyria—estimated to occur in about 1 in about 74,300 individuals—and the type most often seen in children. Women and men appear to be equally affected. While there is currently no known cure for EPP, there are ways to manage it.

How many people in the world have erythropoietic Protoporphyria?

Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. EPP has been reported worldwide, with prevalence between 1:75,000 and 1:200,000.

What is elevated in erythropoietic Protoporphyria?

Erythropoietic Protoporphyria is characterized by abnormally elevated levels of protoporphyrin IX in erythrocytes (red blood cells) and plasma (the fluid portion of circulating blood), and by sensitivity to visible light that is usually noticed in early childhood and occurs throughout life.

How can erythropoietic Protoporphyria be prevented?

Prevention of phototoxicity in EPP is by avoiding sunlight by using sun protective clothes including long sleeve tops, long pants, hats and sunglasses. Sunscreens containing physical reflecting ingredients can reduce the amount of light penetrating the skin.

What is erythropoietic organ?

Regulation of erythropoiesis Erythropoietin is produced in the kidney and liver in response to low oxygen levels. In addition, erythropoietin is bound by circulating red blood cells; low circulating numbers lead to a relatively high level of unbound erythropoietin, which stimulates production in the bone marrow.

Is erythropoietic Protoporphyria a blood disease?

Erythropoietic protoporphyria (EPP) is an inherited porphyria resulting in the accumulation of protoporphyrins in red blood cells that causes acute, painful photosensitivity and potential liver disease. It typically presents in early childhood with immediate pain and crying upon exposure to bright sunlight.

Is erythropoietic porphyria hereditary?

Causes. 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.

Is Protoporphyria recessive or dominant?

It is inherited in an autosomal recessive pattern. A rare disorder that can have symptoms of acute porphyria and symptoms that affect the skin. It results from low levels of the enzyme responsible for the sixth step in heme production. It is inherited in an autosomal dominant pattern.

What enzyme is deficient in Xlink Protoporphyria?

Related Disorders Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low activity of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells.

What enzyme is deficient in this erythropoietic Protoporphyria?

Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful. It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver.

Which enzyme is defective in congenital erythropoietic porphyria?

Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthetic pathway.

What does erythropoietic mean?

(eh-RITH-roh-poy-EE-sis) The formation of red blood cells in blood-forming tissue. In the early development of a fetus, erythropoiesis takes place in the yolk sac, spleen, and liver. After birth, all erythropoiesis occurs in the bone marrow.

What are erythropoietic nutrients?

Folate, vitamin B12, and iron have crucial roles in erythropoiesis. Erythroblasts require folate and vitamin B12 for proliferation during their differentiation.

What is Xlink Protoporphyria?

X-linked protoporphyria is an extremely rare genetic disorder characterized by an abnormal sensitivity to the sun (photosensitivity) that can cause severe pain, burning, and itching of sun-exposed skin.

What is the enzyme deficient in porphyria?

Acute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by partial deficiency of the enzyme hydroxymethylbilane synthase (also known as porphobilinogen deaminase). This enzyme deficiency can result in the accumulation of porphyrin precursors in the body.

What is erythropoiesis name the erythropoietic organ?

How does vitamin B12 cause Macrocytic anemia?

Vitamin B12 deficiency is a cause of macrocytosis. Because DNA synthesis requires cyanocobalamin (vitamin B12) as a cofactor, a deficiency of the vitamin leads to decreased DNA synthesis in the erythrocyte, thus resulting in macrocytosis.