Hematology, chemistry and metabolite parameters in blood and CSF
| At presentation (Blood) . | Case 1 . | Case 2 . | Case 3 . | N ranges . |
|---|---|---|---|---|
| ESR (mm/1st h) | 12 | N.D. | N.D. | <20 |
| CRP (mg/L) | <3 | 4 | 14 | <5 |
| Hb (mmol/L) | 5.2 | 2.0 | 4.0 | 6.0-8.9 |
| MCV (fL) | 89.7∗ | 110 | 85 | 75-95 |
| Reticulocytes (%) | 1.4 | 2.0 | 0.7 | 0.5-2 |
| Red cell distribution width (%) | 15.2 | 17.2 | 22.4 | 12-16 |
| Leukocytes (109/L) | 29.3 | 68.9 | 11.8 | 6-17 |
| Thrombocytes (109/L) | 147 | 159 | 93 | 150-600 |
| % neutrophils | 50.4 | N.D. | 60 | 35-75 |
| % eosinophils | 26.7 | N.D. | 14 | 2-10 |
| % lymphocytes | 21.7 | N.D. | 22 | 17-42 |
| % monocytes | 2.2 | N.D. | 1 | 5-12 |
| % basophils | 0 | N.D. | 0 | 0-2 |
| % blasts | 0 | N.D. | 0 | neg |
| Coombs test | neg | N.D. | N.D. | neg |
| LDH (U/L) | 2294 | 8298 | 3519 | <300 |
| Haptoglobin (mg/L) | 1.2 | <0.10 | <0.10 | 0-2 |
| Ferritin (μg/L) | 860 | N.D. | 5200 | <250 |
| Folic acid (nmol/L) | 4 | N.D. | 11.6 | 10-50 |
| VitB12 (pmol/L) | 359 | N.D. | 217 | 150-700 |
| Homocysteine (μmol/L) | 14† | N.D. | 15† | 0-9 |
| Transcobalamin | normal | N.D. | N.D. | present |
| Thrombopoietin (U/mL) | 280 | N.D. | N.D. | <40 |
| Creatinine (μmol/L) | 26 | 32 | 32 | 35-80 |
| ASAT (U/L) | 47 | 330 | 22 | <50 |
| ALAT (U/L) | 26 | 131 | 19 | <60 |
| CSF (with folinic acid supplementation) | ||||
| 5-MTHF (nmol/L) | N.D. | N.D. | 374 | 105-233 |
| Biopterin (nmol/L; for BH4+BH2) | N.D. | N.D. | 22 | 10-50 |
| At presentation (Blood) . | Case 1 . | Case 2 . | Case 3 . | N ranges . |
|---|---|---|---|---|
| ESR (mm/1st h) | 12 | N.D. | N.D. | <20 |
| CRP (mg/L) | <3 | 4 | 14 | <5 |
| Hb (mmol/L) | 5.2 | 2.0 | 4.0 | 6.0-8.9 |
| MCV (fL) | 89.7∗ | 110 | 85 | 75-95 |
| Reticulocytes (%) | 1.4 | 2.0 | 0.7 | 0.5-2 |
| Red cell distribution width (%) | 15.2 | 17.2 | 22.4 | 12-16 |
| Leukocytes (109/L) | 29.3 | 68.9 | 11.8 | 6-17 |
| Thrombocytes (109/L) | 147 | 159 | 93 | 150-600 |
| % neutrophils | 50.4 | N.D. | 60 | 35-75 |
| % eosinophils | 26.7 | N.D. | 14 | 2-10 |
| % lymphocytes | 21.7 | N.D. | 22 | 17-42 |
| % monocytes | 2.2 | N.D. | 1 | 5-12 |
| % basophils | 0 | N.D. | 0 | 0-2 |
| % blasts | 0 | N.D. | 0 | neg |
| Coombs test | neg | N.D. | N.D. | neg |
| LDH (U/L) | 2294 | 8298 | 3519 | <300 |
| Haptoglobin (mg/L) | 1.2 | <0.10 | <0.10 | 0-2 |
| Ferritin (μg/L) | 860 | N.D. | 5200 | <250 |
| Folic acid (nmol/L) | 4 | N.D. | 11.6 | 10-50 |
| VitB12 (pmol/L) | 359 | N.D. | 217 | 150-700 |
| Homocysteine (μmol/L) | 14† | N.D. | 15† | 0-9 |
| Transcobalamin | normal | N.D. | N.D. | present |
| Thrombopoietin (U/mL) | 280 | N.D. | N.D. | <40 |
| Creatinine (μmol/L) | 26 | 32 | 32 | 35-80 |
| ASAT (U/L) | 47 | 330 | 22 | <50 |
| ALAT (U/L) | 26 | 131 | 19 | <60 |
| CSF (with folinic acid supplementation) | ||||
| 5-MTHF (nmol/L) | N.D. | N.D. | 374 | 105-233 |
| Biopterin (nmol/L; for BH4+BH2) | N.D. | N.D. | 22 | 10-50 |
Values represent the cell numbers and concentrations of the indicated parameters determined during the first week upon admission. Values outside of the age-related normal reference ranges are marked in bold.
ALAT, alanine amino transferase; ASAT, aspartate amino transferase; CRP, C-reactive protein; ESR, erythrocyte sedimentation rate; Hb, hemoglobin; LDH, lactate dehydrogenase; MCV, mean corpuscular volume; 5-MTHF, 5-methyltetrahydrofolate.
Value at admission at an academic center, after the start of folic acid and vitamin B12 supplementation because of anemia and MCV of 105 fL. At admission, the bone marrow biopsy still showed megaloblastic anemia (Figure 1A).
Mildly increased, not compatible with homozygous MTHFR, CBS, or MS enzyme defect.