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 Günther 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.
|Published (Last):||22 October 2010|
|PDF File Size:||14.53 Mb|
|ePub File Size:||2.51 Mb|
|Price:||Free* [*Free Regsitration Required]|
Rare Disease Database
No further modifications are erythrpoietic. Affected individuals may also experience a burning sensation on their skin. Evaluation of Relatives at Risk 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 cpngenital anemia.
As CEP is a very rare condition, most general practitioners will have little experience of the condition.
Congenital Erythropoietic Porphyria – GeneReviews® – NCBI Bookshelf
Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes ertthropoietic cultured lymphoblasts: Hypertrichosis is sometimes severe.
GeneReviews staff have not independently verified the classification of variants. In addition, in some cases, affected individuals may also exhibit malformations of the fingers and nails. Scleral necrosis in a patient with congenital erythropoietic porphyria. Prevention of Secondary Complications Vitamin D supplementation is advised as affected individuals are predisposed to vitamin D insufficiency due to sun avoidance. Cutaneous photosensitivity is present at birth or early infancy and is characterized by blistering and increased friability of the skin over light-exposed areas.
The use of topical sunscreens, protective clothing, long sleeves, hats, gloves, and sunglasses are strongly recommended. Usually, the disease shows itself soon after birth or in early childhood, but sometimes onset of disease is delayed until adolescence or early adulthood.
Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. Signs of congenital erythropoietic porphyria. Blisters affecting whole body may be present congeital neonatal period Oral involvement Corneal erosions.
During the next 2 years transfusions were required because of hemolysis. Uroporphyrinogen III cosynthetase in human congenital erythropoietic porphyria.
See Quick Reference for an explanation of nomenclature. Monitor hepatic function and vitamin D OH every six to twelve months in all patients. Turn recording back on. Support Center Support Center. The major erythrpoietic of this disorder is hypersensitivity of the skin to sunlight and some types of artificial light, such as fluorescent lights photosensitivity.
Successful gene therapy of mice with congenital erythropoietic porphyria. More detailed information for clinicians ordering genetic tests can be found here.
Please consider making a donation now and again in the future. These include oral beta-carotene and other treatments such as activated charcoal and cholestyramine, which are used to interrupt and stop the porphyrins from being reabsorbed in the body. Once the UROS or GATA1 pathogenic variant s have been identified in an affected family member, prenatal testing congenihal a pregnancy at increased risk and preimplantation genetic diagnosis for CEP are possible.
The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Inhibition of the enzyme activity resulting in PCT can be caused by excessive alcohol intake, hemochromatosis, viral hepatitis mostly hepatitis CHIV infection, certain medications, and environmental exposures such as aromatic polyhalogenated hepatotoxins.
Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. In addition to protection from sunlight, the anemia should be treated, if present.
Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that i credit for source http: Avoidance of sunlight is essential to prevent the skin lesions in individuals with CEP. Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria Gunther’s disease. Severe osteopenia in congenital erythropoietic porphyria.