| Catalog ID | Description | Percent Normal Activity | Specimen Assayed | Remark |
| GM00444 | PYRUVATE CARBOXYLASE DEFICIENCY | 2 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM06056 | PYRUVATE CARBOXYLASE DEFICIENCY | 0 | fibroblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
| GM21068 | HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | | | According to the submitter biochemical test results for this subject showed decreased enzyme activity. |