Table 1:
Relevant laboratory studies on day of diagnosis
| Parameter | Result | Reference interval |
|---|---|---|
| Venous blood | ||
| Sodium, plasma (mmol/L) | 142 | 137– 44 mmol/L |
| Potassium, plasma (mmol/L) | 4.4 | 3.5–4.5 mmol/L |
| Chloride, plasma (mmol/L) | 107 | 98–107 mmol/L |
| Bicarbonate, plasma (mmol/L) | 5.8 (L) | 23–27 mmol/L |
| Anion gap* (mmol/L) | 29 (H) | 8–12 mmol/L |
| Albumin, plasma (g/L) | 25 (L) | 35–52 mmol/L |
| Total bilirubin, plasma (μmol/L) | 5 | <19 μmol/L |
| ALP, plasma (U/L) | 251 (H) | 43–105 U/L |
| ALT, plasma (U/L) | 11 | <53 U/L |
| Urea, plasma (mmol/L) | 4.9 | 3.1–7.8 mmol/L |
| Creatinine, plasma (μmol/L) | 176 (H) | 65–109 μmol/L |
| eGFR (CKD-EPI) (ml/min/1.73m2) | 32 | >90 ml/min/1.73m2 |
| Lactate, plasma (mmol/L) | 2.4 (H) | <2.2 mmol/L |
| Beta-hydroxybutyrate, plasma (mmol/L) | 2.92 (H) | ≤0.30 mmol/L |
| Osmolality, serum (mOsm/kg) | 294 | 274–295 mOsm/kg |
| Osmolal gap, plasma** (mOsm/kg) | 3 | <10 mOsm/kg |
| Random glucose, plasma (mmol/L) | 8.3 | - |
| Acetaminophen, serum (μmol/L) | 119 | Therapeutic range: 66–199 μmol/L |
| Arterial blood | ||
| pH | 7.17 (L) | 7.35–7.45 |
| PaCO2 (kPa) | 1.73 | 4.66–6.00 kPa |
| PaO2 (kPa) | 12.4 | 10–13.33 kPa |
| Actual bicarbonate (mmol/L) | 4.7 (L) | 22–26 mmol/L |
| Base excess (mmol/L) | −21.7 (L) | –2.0–+2.0 mmol/L |
| Spot urine | ||
| Sodium, urine (mmol/L) | 93 | - |
| Potassium, urine (mmol/L) | 26 | - |
| Chloride, urine (mmol/L) | <20 | - |
| Urine anion gap*** (mmol/L) | >99 (H) | <10 mmol/L |
| Urine organic acids analysis by LC-MS/MS. | Significant hyper-excretion of pyroglutamic acid. | |
Figure 1.
Pathway of glutathione synthesis and mechanism of pyroglutamic acidosis in cysteine and glutathione depletion.