Table 2. AdoHcy hydrolase activities in extracts of tissues from the patient, his parents, and control subjects.
AdoHcy hydrolase activities, nmol/mg protein per h
|
||||
---|---|---|---|---|
Tissue | Patient | Mother | Father | Controls |
Red blood cells | ||||
Thawed × 1 | 0.7, 0.7* | ND | ND | 3.0-5.8 (n = 7) |
Thawed × 2 | 0.4, 0.5* | 4.9 | 4.8 | 6.1 (n = 1) |
Fibroblasts | 0.17 | ND | ND | 1.5-2.1 (n = 4) |
Liver | 0.54 | ND | ND | 15.4, 17.8 |
Erythrocyte hemolysates were prepared from cells that had been stored frozen for various periods. For the parents only samples thawed twice were available for this assay. Extracts were prepared from fresh cultured skin fibroblasts or from liver samples that had been stored frozen. ND, not determined.
Repeat assays