Abstract
Studies in 30 male patients with symptomatic porphyria reveal an increased activity in the serum of the lysosomal enzyme beta-N-acetylglucosaminidase (EC 3.2.1.30) as compared with a control group of 33 healthy males. Enzymatic activity is higher in the active stage of the disease (with fresh skin lesions) than in patients found in remission. A high degree of correlation has been detected between the activity of beta-N-acetylglucosaminidase in the serum and uroporphyrin in the urine, and the total plasma porphyrins. The increased activity of this enzyme in the serum indicates that the lysosomes participate in the pathogenesis of this disorder. Further studies are warranted for the complete elucidation of the clinical significance of this parameter.
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