Does porphyria affect your teeth?
If you have congenital erythropoietic porphyria (CEP) or hepatoerythropoietic porphyria (HEP), you may have reddish-brown staining on your teeth as a result of porphyrin accumulation. Because of this, you might want veneers, crowns, or facings, all part of cosmetic dentistry, to cover such discoloration.
What accumulates in congenital erythropoietic porphyria?
Congenital erythropoietic porphyria (OMIM 263700) is a rare, autosomal recessive disorder of heme synthesis resulting from a deficiency of uroporphyrinogen III cosynthase (URO-synthase) which leads to an accumulation of porphyrins, particularly uroporphyrinogen I and III, in the bone marrow, blood, and other organs.
Is erythropoietic porphyria hereditary?
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 porphyria a metabolic disorder?
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 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 erythropoietic protoporphyria a rare disease?
What is congenital erythropoietic porphyria?
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.
What are the signs and symptoms of erythropoietic porphyria?
As is characteristic of the erythropoietic Porphyrias, symptoms begin during infancy. Sometimes CEP is recognized as a cause of anemia in a fetus before birth. In less severe cases symptoms may begin during adult life. Porphyrins are markedly increased in bone marrow, red blood cells, plasma, urine and feces.
What is the pathophysiology of porphyria?
Each porphyria is characterized by abnormally high levels of particular chemicals (porphyrins) in the body due to deficiencies of certain enzymes in the step-wise synthesis of heme, the essential component of hemoglobin and various hemo-proteins.
What is Cecep (porphyria)?
CEP is one of a group of disorders known as the porphyrias. Each porphyria is characterized by abnormally high levels of particular chemicals (porphyrins) in the body due to deficiencies of certain enzymes in the step-wise synthesis of heme, the essential component of hemoglobin and various hemo-proteins.