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Table 1 TRNT1 deficient patients- biochemical and other laboratory data

From: TRNT1 deficiency: clinical, biochemical and molecular genetic features

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
  1. NA: not available