Red cell enzymes in the patients with AK deficiency
. | Patient 1 . | Reference values, range* . | Patient 2 . | Reference values, range† . |
|---|---|---|---|---|
| Hexokinase | 1.88 | 0.62-1.26 | 2.23 | 0.67-1.79 |
| Glucosephosphate isomerase | 69 | 45.0-66.0 | 45.2 | 25.4-51.6 |
| Phosphofructokinase | 9.4 | 6.20-13.9 | 3.80 | 3.02-6.38 |
| Triosephosphate isomerase | 1446 | 1361-2769 | 1560 | 805-1971 |
| Glyceraldehyde-P-dehydrogenase | 291 | 168-300 | 152 | 119-258 |
| Phosphoglycerate kinase | 394 | 197-343 | 239.9 | 175-260 |
| Pyruvate kinase | 19.6 | 8.40-15.2 | 11.97 | 7.32-16.0 |
| Glucose-6-phosphate dehydrogenase | 11.7 | 5.70-9.90 | 14.1 | 9.30-14.2 |
| 6-phosphogluconic dehydrogenase | 11.6 | 6.12-10.2 | 9.65 | 6.75-10.7 |
| Adenylate kinase | 64 | 180-310 | 44.9 | 87.7-241 |
| Enolase | 10 | 3.58-8.22 | 6.80 | 2.91-6.0 |
| Monophosphoglyceratemutase | 13.6 | 10.7-20.63 | 22.63 | 13.4-24.10 |
| Diphosphoglyceratemutase | 8.0 | 2.86-7.70 | 6.54 | 1.21-5.27 |
| Lacticdehydrogenase | 202 | 135-233 | 128 | 60.4-214 |
| Glutathione reductase | 12.3 | 5.30-11.90 | 5.10 | 0.62-8.83 |
| Glutathione peroxidase | 10.2 | 9.10-25.0 | 33.7 | 21.4-40.3 |
| Adenosine deaminase | 2.0 | 0.54-1.40 | 1.06 | 0.70-1.60 |
| Pyrimidine 5′ nucleotidase, mU/gHb | 230 | 150-210 | 299.7 | 100.5-176.1 |
| Aldolase | 2.8 | 1.46-3.46 | 2.65 | 1.01-3.29 |
. | Patient 1 . | Reference values, range* . | Patient 2 . | Reference values, range† . |
|---|---|---|---|---|
| Hexokinase | 1.88 | 0.62-1.26 | 2.23 | 0.67-1.79 |
| Glucosephosphate isomerase | 69 | 45.0-66.0 | 45.2 | 25.4-51.6 |
| Phosphofructokinase | 9.4 | 6.20-13.9 | 3.80 | 3.02-6.38 |
| Triosephosphate isomerase | 1446 | 1361-2769 | 1560 | 805-1971 |
| Glyceraldehyde-P-dehydrogenase | 291 | 168-300 | 152 | 119-258 |
| Phosphoglycerate kinase | 394 | 197-343 | 239.9 | 175-260 |
| Pyruvate kinase | 19.6 | 8.40-15.2 | 11.97 | 7.32-16.0 |
| Glucose-6-phosphate dehydrogenase | 11.7 | 5.70-9.90 | 14.1 | 9.30-14.2 |
| 6-phosphogluconic dehydrogenase | 11.6 | 6.12-10.2 | 9.65 | 6.75-10.7 |
| Adenylate kinase | 64 | 180-310 | 44.9 | 87.7-241 |
| Enolase | 10 | 3.58-8.22 | 6.80 | 2.91-6.0 |
| Monophosphoglyceratemutase | 13.6 | 10.7-20.63 | 22.63 | 13.4-24.10 |
| Diphosphoglyceratemutase | 8.0 | 2.86-7.70 | 6.54 | 1.21-5.27 |
| Lacticdehydrogenase | 202 | 135-233 | 128 | 60.4-214 |
| Glutathione reductase | 12.3 | 5.30-11.90 | 5.10 | 0.62-8.83 |
| Glutathione peroxidase | 10.2 | 9.10-25.0 | 33.7 | 21.4-40.3 |
| Adenosine deaminase | 2.0 | 0.54-1.40 | 1.06 | 0.70-1.60 |
| Pyrimidine 5′ nucleotidase, mU/gHb | 230 | 150-210 | 299.7 | 100.5-176.1 |
| Aldolase | 2.8 | 1.46-3.46 | 2.65 | 1.01-3.29 |