| Catalog ID | Description | Percent Normal Activity | Specimen Assayed | Remark |
| GM00918 | GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I | <1 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM01602 | MUCOPOLYSACCHARIDOSIS TYPE IVB | <7 | fibroblasts | Giugliani et al (Clin Genet 32:313-325 1987) assayed B-galactosidase activity in this fibroblast culture using 4-methylumbelliferyl B-Dgalactoside and with the alternative artificial substrates: 4MU B-Dfucoside and 4MU A-L-arabinoside. Deficient enzyme activity towards all of these substrates was observed. The respective observed values were 7.2% 2.6% and 1.2% of normal control activities. Oshima et al (Am J Hum Genet 49:1091-1093 1991) reported that DNA from this Morquio B disease patient had 2 mutations in the B-galactosidase gene: Trp-273>Leu and Arg-482>His. |
| GM01602 | MUCOPOLYSACCHARIDOSIS TYPE IVB | 4 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM02439 | GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II, OR JUVENILE TYPE | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM03251 | MUCOPOLYSACCHARIDOSIS TYPE IVB | <6 | fibroblasts | Giugliani et al (Clin Genet 32:313-325 1987) assayed B-galactosidase activity in this fibroblast culture using 4-methylumbelliferyl B-Dgalactoside and with the alternative artificial substrates: 4MU B-Dfucoside and 4MU A-L-arabinoside. Deficient enzyme activity towards all of these substrates was observed. The respective observed values were 6.4% 2.2% and .7% of normal control activities. Oshima et al (Am J Hum Genet 49:1091-1093 1991) reported that DNA from this Morquio B disease patient had 2 mutations in the B-galactosidase gene: Trp-273>Leu and Trp-509>Cys. |
| GM03251 | MUCOPOLYSACCHARIDOSIS TYPE IVB | 4 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM03589 | GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I | <1 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM05335 | GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I | 1-2 | fibroblasts/WBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM10919 | GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I | <1 | fibroblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM11473 | CANINE GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1 | | umbilical cord | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM11474 | CANINE GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1 | | umbilical cord | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM21262 | GALACTOSIALIDOSIS; GSL | <20 | leukocytes | According to the submitter biochemical test results for this subject showed decreased enzyme activity. |