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J Lab Clin Med ; 97(4): 551-8, 1981 Apr.
Article in English | MEDLINE | ID: mdl-7205063

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.


Subject(s)
Isomerases/metabolism , Photosensitivity Disorders/enzymology , Porphyrias/enzymology , Uroporphyrinogen III Synthetase/metabolism , Adult , Erythropoiesis , Humans , Male , Pedigree , Photosensitivity Disorders/congenital , Porphyrias/congenital , Time Factors
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