Table 1.
Laboratory findings in a patient with HHH syndrome.
| At admission | At relapse (18 months later) | Reference values* | ||
|---|---|---|---|---|
| Plasma ammonia (μmol/L) | 360 | 230 | ≤ 40 | |
| Plasma aminoacids | Citrulline | 33 | – | 0-50 |
| (μmol/L) | Ornithine | 113 | 436 | 0-250 |
| Ornithine/citrulline ratio | 3.5 | – | 1.5-20.0 | |
| Arginine | 31 | – | 0-100 | |
| Glutamine | 1346 | 1154 | 333-809 | |
| Glutamic acid | 238 | 142 | 0-600 | |
| Metabolite urinary excretion | Orotic acid (μmol/mmol creatinine) | 684.5 | – | < 10.0 |
| Liver enzymes | aspartate aminotransferase (AST) | 70 | 36 | 5-25 |
| (U/L) | alanine aminotransferase (ALT) | 160 | 40 | 3-25 |
| alkaline phosphatase (ALP) | 303 | 696 | 70-448 | |
| gamma glutamyl transferase (GGT) | 30 | 14 | 5-39 | |
| Hemostasis | Prothrombin activity (%) | 42 | – | 80-100 |
| aPTT (seg) | 94 | – | 28-46 | |
| Blood cytology | Red blood cell count (x 106/μL) | 4.51 | 4.85 | 4.00-5.20 |
| Hematocrit (%) | 38.5 | 38.5 | 33.0-42.5 | |
| Hemoglobin (g/dL) | 12.1 | 12.3 | 11.0-14.2 | |
| Leukocyte cell count (x 103/μL) | 9.54 | 11.87 | 5.50-15.50 | |
| Neutrophils [/μL, (%)] | 3530 (37) | 2968 (25) | 1500-7300 (27-50) | |
| Eosinophils [/μL, (%)] | 191 (2) | 237 (2) | 0-500 (0-3) | |
| Basophils [/μL, (%)] | 0 (0) | 0 (0) | 0-100 (0-2) | |
| Lymphocytes [/μL, (%)] | 4293 (45) | 7834 (66) | 2300-8000 (50-56) | |
| Monocytes [/μL, (%)] | 1145 (12) | 356 (3) | 0-900 (0-5) | |
| Atypical lymphocytes [/μL, (%)] | 286 (3) | 475 (4) | 0-100 (0-1) | |
| Lymphocyte subsets | NK cells [/μL, (%)] | – | 260 (3.3) | 246-461 (6.0-14.0) |
| (flow cytometry) | B cells [/μL, (%)] | – | 671 (8.6) | 411-685 (11.0-18.0) |
| T cells [/μL, (%)] | – | 5664 (72) | 2054-3169 (67.0-75.0) | |
| CD4+ T cells [/μL, (%)] | – | 4452 (78.6) | 1129-1581 (33.0-43.5) | |
| CD8+ T cells [/μL, (%)] | – | 1212 (21.4) | 711-1121 (22.5-29.5) | |
| CD4:CD8 | – | 3.67 | 1.12-1.93 | |
| Serum protein | Total proteins (g/dL) | 6.3 | 6.62 | 6.4-8.3 |
| electrophoresis | Albumin [g/dL, (%)] | 3.89 (61.8) | 4.03 (60.9) | 3.85-4.83 (55.0-69.0) |
| Alpha-1 globulin [g/dL, (%)] | 0.27 (4.3) | 0.17 (2.5) | 0.07-0.42 (1.0-6.0) | |
| Alpha-2 globulin [g/dL, (%)] | 0.74 (11.8) | 0.77 (11.7) | 0.42-0.84 (6.0-12.0) | |
| Beta-1 globulin [g/dL, (%)] | 0.44 (7.0) | 0.71 (10.7) | 0.42-0.84 (6.0-12.0) | |
| Beta-2 globulin [g/dL, (%)] | 0.33 (5.3) | 0.19 (2.8) | 0.07-0.21 (1.0-3.0) | |
| Gamma globulin [g/dL, (%)] | 0.62 (9.8) | 0.75 (11.4) | 0.77-1.26 (11.0-18.00) | |
| Albumin/Globulin | 1.62 | 1.56 | 1.00-2.00 | |
| Serum | IgM (mg/dL) | 109 | 126 | 38-90 |
| immunoglobulins | IgG (mg/dL) | 608 | 690 | 701-1157 |
| IgE (UI/mL) | 32 | 17 | < 90 | |
| IgA (mg/dL) | 112 | 80 | 66-120 | |
*Reference normal values according to patient age and sex currently established and used in the local setting (Hospital de Pediatría Dr. Juan P. Garrahan, Buenos Aires, Argentina).
Bold values mean abnormal or out of the reference range values.