Erythropoietic porphyria

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Erythropoietic porphyria

Erythropoietic porphyria is a type of porphyria

Porphyria

Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway . They are broadly classified as acute porphyrias and cutaneous porphyrias, based on the site of the overproduction and accumulation of the porphyrins ....
associated with erythropoietic cells. In erythropoietic porphyrias, the enzyme deficiency occurs in the red blood cell

Red blood cell

Red blood cells are the most common type of blood cell and the vertebrate body's principal means of delivering oxygen to the body tissues via the blood....
s.

There are three types:

X-linked sideroblastic anemia or "X-linked dominant erythropoietic protoporphyria", associated with ALAS2

ALAS2

Delta-aminolevulinate synthase 2 also known as ALAS2 is a protein which in humans is encoded by the ALAS2 gene. ALAS2 is an aminolevulinic acid synthase....
(aminolevulinic acid synthase

Aminolevulinic acid synthase

The rate-limiting enzyme in porphyrin and heme biosynthesis is ALA synthase, the enzyme that catalyses glycine and succinyl-CoA into D-Aminolevulinic acid....
), has also been described.

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Erythropoietic porphyria is a type of porphyria

Porphyria

Red blood cell

Red blood cells are the most common type of blood cell and the vertebrate body's principal means of delivering oxygen to the body tissues via the blood....
s.

There are three types:

Name	OMIM	Gene
erythropoietic protoporphyria Erythropoietic protoporphyria Erythropoietic protoporphyria is a relatively mild form of porphyria, although very painful, which arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.... (EPP)		ferrochelatase Ferrochelatase Ferrochelatase is an enzyme that catalyses the terminal step in the biosynthesis of heme, converting protoporphyrin IX into heme. It catalyses reaction: protoporphyrin + Fe++ ? protoheme + 2 H+....
congenital erythropoietic porphyria or "Gunther's" (CEP)		uroporphyrinogen III synthase Uroporphyrinogen III synthase Uroporphyrinogen III synthase is an enzyme involved in the fourth step of porphyrin metabolism, involved in the conversion of hydroxymethyl bilane into uroporphyrinogen III....
hepatoerythropoietic porphyria Hepatoerythropoietic porphyria Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in both genes which code Uroporphyrinogen III decarboxylase ....		uroporphyrinogen III decarboxylase Uroporphyrinogen III decarboxylase Uroporphyrinogen decarboxylase, also known as UROD, is a human gene.Uroporphyrinogen III decarboxylase is a homodimeric enzyme which catalyzes the fifth step in heme biosynthesis: the elimination of carboxyl groups from the four acetate side chains of uroporphyrinogen III to yield coproporphyrinogen III....

X-linked sideroblastic anemia or "X-linked dominant erythropoietic protoporphyria", associated with ALAS2

ALAS2

Delta-aminolevulinate synthase 2 also known as ALAS2 is a protein which in humans is encoded by the ALAS2 gene. ALAS2 is an aminolevulinic acid synthase....
(aminolevulinic acid synthase

Aminolevulinic acid synthase

The rate-limiting enzyme in porphyrin and heme biosynthesis is ALA synthase, the enzyme that catalyses glycine and succinyl-CoA into D-Aminolevulinic acid....
), has also been described.

Erythropoietic porphyria

See also