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Figure 1.

Pathway of glutathione synthesis and mechanism of pyroglutamic acidosis in cysteine and glutathione depletion.
Pathway of glutathione synthesis and mechanism of pyroglutamic acidosis in cysteine and glutathione depletion.

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.
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Medicine, Clinical Medicine, other, Surgery, Anaesthesiology, Emergency Medicine and Intensive-Care Medicine