Table 1.
TRNT1 deficient patients- biochemical and other laboratory data
| Analyte | P1 | P2 | P3 | P4 | P4: 2 years post bone marrow transplant | Reference range |
|---|---|---|---|---|---|---|
| Plasma Lactate mmol/L | >2.5 | 3.1 | 1.2–2.8 | 1.4–2.7 | 1.1 | <2 |
| CSF Lactate mmol/L | 2.5 | NA | NA | NA | NA | <2 |
| CSF protein g/L | 0.41–1.79 | NA | NA | NA | NA | <0.3 |
| Plasma glycine μmol/L | 504 | 248 | 280–332 | 310–344 | 235 | 100–330 |
| Plasma threonine μmol/L | 256 | 305 | 168–266 | 329–556 | 260 | 70–220 |
| Plasma proline μmol/L | 246 | 255 | 291–452 | 304–414 | 249 | 85–290 |
| Plasma leucine μmol/L | 91 | 133 | 140–245 | 96–198 | 129 | 65–220 |
| Plasma isoleucine μmol/L | 46 | 73 | 63–118 | 69–114 | 68 | 26–100 |
| Plasma valine μmol/L | 142 | 216 | 244–404 | 197–323 | 255 | 90–300 |
| Plasma alanine μmol/L | 296 | 458 | 562–875 | 572–665 | 346 | 150–450 |
| Plasma ornithine μmol/L | 101 | 107 | 83–210 | 112–241 | 145 | 25–120 |
| White Cell Ubiquinone pmol/mg protein | NA | 57.0 | 10.0 | NA | NA | 37–133 |
| Creatine kinase u/L | NA | 87–383 | 88 | 41–137 | NA | 75–230 |
| Electrolytes mmol/L | Episodic hyponatraemia (131), hypokalaemia (2.7), hypocalcaemia (1.7), hypomagnesaemia (0.51), hypophosphataemia (0.89) | Normal | Episodic hyponatraemia, hypokalaemia, hypocalcaemia, hypomagnesaemia, hypophosphatemia | Not done during acute episode of illness | Normal | |
| Intact PTH pmol/L | 3.3 | NA | 8.0 | NA | NA | 1.1–5.4 |
| Gamma GT u/L | 300 | normal | NA | NA | NA | 10–20 |
| Urine organic acids | Mildly raised 3OH-butyrate with moderately raised adipate, suberate and 3OH-sebacate and mildly raised sebacate, C8:1 and C10:1 dicarboxylates, 3OH (C14:0, C8:1, C10:1) dicarboxylates | No abnormality | Strongly raised 3-hydroxybutyrate and acetoacetate | Mildly raised pyruvate | NA | NA |
| Urine amino acids | NA | NA | Generalised aminoaciduria | NA | NA | NA |
| Urine NAG/creatinine | 612–2606 | 217 | 666 | NA | NA | 3.5–27.3 |
| Urine RBP/creatinine | 4531–25714 | 961 | 419 | NA | NA | 1.9–42.6 |
| Hb g/L | Lowest 79 (freq transfusions) | 66, 67 | 65–74 | 71, 68 | (sample clotted) | 114–145 |
| Blood film | Anisocytosis, neutropaenia, dimorphic red cells, pencil cells, elliptocytes on film | Marked anisopoikilocytosis with hypochromic red cells, elliptocytes and fragments | Marked red cell anisopoikilocytosis. Many hypochromic, microcytic red cells and elliptocytes. Numerous red cell fragments. Occasional target cells | Neutrophils show toxic granulation marked RBC abnormalities: poikilocytosis, microcytosis, eliptocytosis, hypochromic red cells. polychromasia | NA | |
| IgG g/L | 2.24–5.42 (3.7–15.8) |
0.86 (3–10.9) |
3.95, 10.6 (5.4–16.1) |
4.11–4.32 (4.9–16.1) |
10.90 | |
| IgA g/L | <0.03 (0.3–1.3) |
<0.06 (0.2–0.7) |
0.15–0.62 (0.5–1.8) |
0.17–0.41 (0.4–2.0) |
0.76 | |
| IgM g/L | 0.11–0.23 (0.5–2.2) |
0.17 (0.6–2.1) |
0.09, 0.20 (0.5–2.2) |
0.29–1.19 (0.5–2.0) |
0.58 | |
| Lymphocyte Subsets | Absent B cells | Low B cells | Low B cells | NA | NA | |
| Other | Moderate exocrine pancreatic insufficiency (stool elastase 182 μg/g, normal >200); later undetectable. Hair shafts: normal histology. Duodenal biopsy: partial villous atrophy. Liver iron:143 μg/100 ml dry weight. Normal very long chain fatty acids (VLCFA) |
Pancreatic elastase 1 (μg/g) <15 Undetectable | Normal ammonia, blood spot carnitine profile, VLCFA, copper, caeruloplasmin, plasma methylmalonic acid (MMA), autoimmune profile; large bowel histology – mild patchy increase in eosinophils in lamina propria | Normal transferrin glycoforms, blood spot carnitine profile, VLCFA, urate, copper, caeruloplasmin, plasma MMA | NA | |
| Muscle histology | No ragged-red fibres or COX negative fibres | ND | NA | ND | NA | |
| Muscle respiratory chain enzymes (ratio to citrate synthase) | Complex I 0.139 Complex II + III 0.064 Complex IV 0.015 |
NA | Complex I 0.228 Complex II + III 0.068 Complex IV 0.007 |
NA | NA | Complex I 0.104–0.268 Complex II and III 0.040–0.204 Complex IV 0.014–0.034 |
NA: not available