Summary
Carboxypeptidase activity with an optimal pH at 5.7 was found to be deficient in cultured lymphoblastoid cells and skin fibroblasts from 16 galactosialidosis patients of Japanese origin. The amounts of residual enzyme activities did not correlate with clinical phenotypes (early infantile and juvenile/adult). Four parents of the patients from different families showed enzyme activities at an intermediate level between the patients and normal controls. It was concluded that this enzyme deficiency is closely connected to the genetic defect of “protective protein.” Further characterization with various protease inhibitors indicated that the enzyme deficient in galactosialidosis cells is a serine carboxypeptidase with histidine and cysteine residues at or near the active site.
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Itoh, K., Takiyama, N., Nagao, Y. et al. Acid carboxypeptidase deficiency in galactosialidosis. Jap J Human Genet 36, 171–177 (1991). https://doi.org/10.1007/BF01876581
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DOI: https://doi.org/10.1007/BF01876581
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