title: Congenital erythropoietic porphyria (Günther's disease): enzymatic studies on two cases of late onset.
abstract: 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.
mesh_terms: D000328:Adult; D004920:Erythropoiesis; D006801:Humans; D007535:Isomerases / Q000378:metabolism*; D008297:Male; D010375:Pedigree; D010787:Photosensitivity Disorders / Q000151:congenital / Q000201:enzymology*; D011164:Porphyrias / Q000151:congenital / Q000201:enzymology*; D013997:Time Factors; D014576:Uroporphyrinogen III Synthetase / Q000378:metabolism*
chemical_list: D014576:Uroporphyrinogen III Synthetase; D007535:Isomerases