CONGENITAL ERYTHROPOIETIC PORPHYRIA (GUNTHERS DISEASE) - ENZYMATIC STUDIES ON 2 CASES OF LATE ONSET

  • 1 January 1981
    • journal article
    • research article
    • Vol. 97  (4) , 551-558
Abstract
Cosynthetase was measured in hemolysates of 2 patients with CEP [congenital erytropoietic porphyria] that appeared in adulthood. The level of cosynthetase ativity was very low (mean 18% of normal), ruling out the hypothesis of heterozygous cases. Several obligatory heterozygous carriers were studied in whom cosynthetase activity was intermediate (mean 46.66% of normal) between the levels of normal controls and homozygous patients, wheras PBG [porphobilinogen] deaminase was always normal. The nature of the metabolic abnormality is a primary defect of the cosynthetase activity; some cases of late onset emphasize the heterogeneity of the disease.

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