Erythropoietic porphyria (EP) is a rare inborn error of porphyrin-heme synthesis inherited that is as an autosomal recessive trait. Congenital erythropoietic porphyria (CEP; OMIM #, also called G├╝nther disease) is a rare, autosomal recessive porphyria. It results from. Gunther disease, also known as congenital erythropoietic porphyria (CEP), uroporphyrinogen III synthase deficiency and UROS deficiency, is a congenital form.

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Gunther disease

The assay for the enzyme uroporphyrinogen III synthase is available on a clinical basis and can be erjthropoietic to establish the diagnosis of CEP. They demonstrated long-term biochemical and clinical effectiveness of BMT performed in a severely affected, transfusion-dependent month-old female with CEP.

Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria. Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: Herlitz JEB classic severe form: Since its description at the end of the 19th century, about cases have been reported in the literature.

Somatic and mental development were poor. Expert curators review the literature and organize it to facilitate your work.

Rare Disease Database

The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. After exposure to light, the photo-activated porphyrins in the skin cause bullae blistering and the fluid-filled sacs rupture, and the lesions often get infected. Usually manifests in adulthood Distinct biochemical porphyrin profile. It is appropriate to evaluate at-risk sibs as newborns or infants in order to identify as early as possible those who would benefit from early intervention no phototherapy, strict sun protection and future monitoring for signs of hemolytic anemia.

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In milder cases patients have not presented any symptoms until they have reached adulthood.

Congenital Erythropoietic Porphyria – GeneReviews┬« – NCBI Bookshelf

Due to congenitaal low levels of these enzymes, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells. Skin thickening, focal hyper- or hypopigmentation, and hypertrichosis of face and extremities may occur [ Poh-Fitzpatrick ].

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Urinary porphyrin excretion is markedly increased times normal and consists mainly erytbropoietic uroporphyrin I and coproporphyrin I, with lesser increases in hepta- hexa- and pentacarboxyl porphyrin isomers [ Fritsch et al ].

Neither parent has symptoms of CEP, but each carries a defective gene that they can pass to their children. Sibs of a proband.

Diagnosis Formal diagnostic criteria have not been established for congenital erythropoietic porphyria CEP. Corrective surgery of eyelids to help protect the cornea from injury in those with ectropion [ Katugampola et al a ].

Orphanet: Congenital erythropoietic porphyria

Other disorders presenting with a congenital erythropoietic porphyria CEP -like phenotype are listed in Table 3. The disease most often manifests at birth with extreme cutaneous photosensitivity that is severe and mutilating.


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Reddish-brown discoloration of teeth fluoresce on exposure to long-wave ultraviolet lightalso called erythrodontia.

In addition, there are skin disorders characterized by hypersensitivity to artificial light and sunlight besides CEP, such as epidermolysis bullosa. Splenomegaly usually develops secondary to hemolysis and can also lead to thrombocytopenia and leukopenia. Management and treatment Management of the disease is often difficult becausehemolytic anemia, splenic sequestration and thrombocytopenia often necessitate repeated transfusions, which in turn can lead to iron overload. Congenital Erythropoietic Porphyria Synonym: Disorders of heme biosynthesis: A GATA1 pathogenic variant p.

Specialised Social Services Eurordis directory. Poephyria diagnosis is made by finding increased levels of specific porphyrins in the urine. Each of the 2 forms of porphyria was established by enzymatic study. Bone marrow transplantation has recently spectacularly improved the prognosis of congenital erythropoietic porphyria particularly if the patient is young by healing cutaneous lesions and hemolytic anemia and causing them to disappear.