A Comparative Study on Miscellaneous Lysosomal Enzyme Contents Between Human, Fetal Liver and Human Rectal Mucosa, and on Applicability of Rectal Mucosal Biopsy for Screening of Hereditary Lysosomal Storage Diseases.

Assays of the basic enzyme activity and metabolic products in urine, serum, leucocytes or cultured skin fibroblasts have been used for the diagnosis of hereditary lysosomal storage diseases. However, several disadvantages lie in these procedures including the large amount of materials, decrease of enzyme activities in specimens due to complexity in handling and conservation, particular techniques, and physical or financial burden to patients. In contrast, rectal mucosal biopsy using the intestinal biopsy apparatus of the Crosby-Kugler capsule has provided a safer and easier method to obtain a specimen from the patient. In order to evaluate this useful method of rectal biopsy as a diagnostic tool for hereditary lysosomal storage diseases, the present study was conducted to compare the basic enzyme activity in rectal mucosal biopsy specimens of patients with hereditary lysosomal storage diseases with that in control autopsy liver specimens. The following results were obtained. 1. Activities of α-D-mannosidase, ,β-D-glucuronidase, β-D-galactosidase, α-L-fucosidase, β-D-glucosidase, α-D-galactosidase and β-D-N-acetyl-glucosaminidase were clearly detectable in rectal mucosal biopsy specimens obtained by the intestinal biopsy apparatus of the Crosby-Kugler capsule. 2. Almost similar patterns were observed on the pH curves of each basic enzyme activity in rectal mucosa, control liver and fetal liver specimens. 3. Each elution pattern of these specimens by Sephadex G-150 gel fitration and DEAE 52 ion exchange chromatography was similar. 4. The basic enzyme activities of rectal mucosal biopsy specimens of patients with hereditary lysosomal storage diseases were remarkably reduced, compared to those of control specimens. 5. It was concluded that rectal mucosal biopsy is useful in diagnosis of hereditary lysosomal storage diseases, since seven lysosomal enzyme activities assayed in rectal mucosa specimens showed the same activity as those of liver specimens