What accumulates in congenital erythropoietic porphyria?

What accumulates in congenital erythropoietic porphyria?

A mutation in GATA1, an X-linked transcription factor, has been reported in association with erythropoietic porphyria. Uroporphyrinogen I accumulates in the skin. With an excess of uroporphyrinogen and in the presence of 404-nm wavelengths of light, free radicals are formed leading to photodermatitis.

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.

Which organelle is affected by porphyria?

Porphyrin-Induced Oxidative Stress Causes Cell Damage Given the site of synthesis, Uro and Copro localizes in the cytosol compared with PP-IX in mitochondria (Figure 1A).

What causes congenital erythropoietic porphyria ( CEP )?

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by photosensitivity and by hematologic abnormalities in affected individuals. CEP is caused by mutations in the uroporphyrinogen synthase (UROS) gene. In three reported cases, CEP has been associated with …

How does erythropoietic porphyria affect the body?

It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. [2] [3] Photosensitivity and infection may cause the loss of fingers and facial features. [1]

What should I wear if I have congenital erythropoietic porphyria?

The use of topical sunscreens, protective clothing, long sleeves, hats, gloves, and sunglasses are strongly recommended. Individuals with CEP will benefit from window tinting or using vinyls or films to cover the windows in their car or house.

Which is the rarest type of porphyria in infants?

Summary Summary. Listen. Congenital erythropoietic porphyria (CEP) is the rarest type of porphyria and is commonly seen in infancy. It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands.