Abstract

Activity of β-galactosidase, β-glucuronidase and N-acetl- β-glucosaminidase was determined by biopsy specimens of rectal mucosa of control subjects, cystinotic children and their parents. The studied enzymes exhibited maximal activity at pH 5.0, 4.0 and 4.5, respectively. Apparent K m values using P-nitrophenyl- β-galactoside, p-nitrophenyl- β-glucuronide and p-nitropheny- β-glucosaminide were found to be 0.52 mM, 0.70 mM, and 0.67 mM. The activity of all three enzymes was found to be closely correlated in the 11 subjects of the control group. The values found in parents and their cystinotic children fit into these correlations, but show higher scatter of data caused by the fact that values of β-galactosidase were found to be higher and of β-glucuronidase and N-acetyl-glucosaminidase lower in the group of parents than in the other two groups.

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