BIOMAT Database Logo BIOMAT Database Logo

Congenital erythropoietic porphyria (Günther's disease): enzymatic studies on two cases of late onset. 1981

J C Deybach, and H de Verneuil, and N Phung, and Y Nordmann, and A Puissant, and B Boffety

Cosynthetase was measured in hemolysates of two patients with CEP that appeared in adulthood. The level of cosynthetase activity was found to be very low (mean 18% of normal), ruling out the hypothesis of heterozygous cases. Several obligatory heterozygous carrier were also studied in whom cosynthetase activity was found to be intermediate (mean 46.66% of normal) between the levels of normal controls and homozygous patients whereas PBG deaminase was always normal. The nature of the metabolic abnormality is undoubtedly a primary defect of the cosynthetase activity; some cases of late onset emphasize the heterogeneity of the disease.

UI MeSH Term Description Entries
D007535 Isomerases A class of enzymes that catalyze geometric or structural changes within a molecule to form a single product. The reactions do not involve a net change in the concentrations of compounds other than the substrate and the product.(from Dorland, 28th ed) EC 5. Isomerase
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010787 Photosensitivity Disorders Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy. Actinic Reticuloid Syndrome,Dermatitis, Actinic,Photodermatitis,Chronic Actinic Dermatitis,Photosensitization,Actinic Dermatitides,Actinic Dermatitides, Chronic,Actinic Dermatitis,Actinic Dermatitis, Chronic,Actinic Reticuloid Syndromes,Chronic Actinic Dermatitides,Dermatitides, Actinic,Dermatitides, Chronic Actinic,Dermatitis, Chronic Actinic,Disorder, Photosensitivity,Disorders, Photosensitivity,Photodermatitides,Photosensitivity Disorder,Reticuloid Syndrome, Actinic,Reticuloid Syndromes, Actinic,Syndrome, Actinic Reticuloid,Syndromes, Actinic Reticuloid
D011164 Porphyrias A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues. Porphyria,Porphyrin Disorder,Disorder, Porphyrin,Disorders, Porphyrin,Porphyrin Disorders
D004920 Erythropoiesis The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction. Erythropoieses
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013997 Time Factors Elements of limited time intervals, contributing to particular results or situations. Time Series,Factor, Time,Time Factor
D014576 Uroporphyrinogen III Synthetase An enzyme that catalyzes the cyclization of hydroxymethylbilane to yield UROPORPHYRINOGEN III and water. It is the fourth enzyme in the 8-enzyme biosynthetic pathway of HEME, and is encoded by UROS gene. Mutations of UROS gene result in CONGENITAL ERYTHROPOIETIC PORPHYRIA. Cosynthase,Uroporphyrinogen III Cosynthetase,Uroporphyrinogen Isomerase,Uroporphyrinogen-III Synthase,Cosynthetase, Uroporphyrinogen III,Isomerase, Uroporphyrinogen,Synthase, Uroporphyrinogen-III,Synthetase, Uroporphyrinogen III,Uroporphyrinogen III Synthase

Related Publications

J C Deybach, and H de Verneuil, and N Phung, and Y Nordmann, and A Puissant, and B Boffety
Adult-onset congenital erythropoietic porphyria (Günther's disease) presenting with thrombocytopenia.
June 1995, Journal of the Royal Society of Medicine,
J C Deybach, and H de Verneuil, and N Phung, and Y Nordmann, and A Puissant, and B Boffety
[Günther's erythropoietic porphyria with late disclosure].
January 1983, Annales de dermatologie et de venereologie,
J C Deybach, and H de Verneuil, and N Phung, and Y Nordmann, and A Puissant, and B Boffety
Late-Onset Congenital Erythropoietic Porphyria.
February 2022, JAMA dermatology,
J C Deybach, and H de Verneuil, and N Phung, and Y Nordmann, and A Puissant, and B Boffety
Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma.
January 2003, Prenatal diagnosis,
J C Deybach, and H de Verneuil, and N Phung, and Y Nordmann, and A Puissant, and B Boffety
Late onset erythropoietic porphyria (Gunther's disease).
September 2011, Journal of the College of Physicians and Surgeons--Pakistan : JCPSP,
J C Deybach, and H de Verneuil, and N Phung, and Y Nordmann, and A Puissant, and B Boffety
Hematin therapy in late onset congenital erythropoietic porphyria.
August 1990, British journal of haematology,
J C Deybach, and H de Verneuil, and N Phung, and Y Nordmann, and A Puissant, and B Boffety
Late onset erythropoietic porphyria.
August 1989, The British journal of dermatology,
J C Deybach, and H de Verneuil, and N Phung, and Y Nordmann, and A Puissant, and B Boffety
Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (Günther's disease).
April 1997, Archives of dermatological research,
J C Deybach, and H de Verneuil, and N Phung, and Y Nordmann, and A Puissant, and B Boffety
Erythropoietic (congenital) porphyria; two cases in Sudanese siblings.
August 1957, Lancet (London, England),
J C Deybach, and H de Verneuil, and N Phung, and Y Nordmann, and A Puissant, and B Boffety
Perinatal onset of severe congenital erythropoietic porphyria.
March 2023, Archives of disease in childhood. Fetal and neonatal edition,
Copied contents to your clipboard!