Table 1 The results of key metabolic investigations in the patient.
Investigation | Result | Reference range | Interpretation |
|---|---|---|---|
Serum insulin (when glucose was 2.2 mmol/L) | <6 pmol/L | Appropriate insulin for hypoglycaemia | |
Blood lactate | 13.4 mmol/L | <1.8 | Elevated ratio, not consistent with pyruvate dehydrogenase deficiency |
Blood pyruvate | 0.28 mmol/L | 0.04–0.15 | |
Blood alanine | 1.04 mmol/L | 0.2–0.5 | |
Blood 3-OH butyrate | 0.26 mmol/L | Normal ratio | |
Plasma non-esterified fatty acids | 0.65 mmol/L | ||
Plasma ammonia | 33 µmol/L | <50 | |
Blood spot acylcarnitines | Normal | ||
Urine organic acids | Elevated lactate and pyruvate, and no increase in Kreb’s cycle intermediates. Elevated ketones with no increase in dicarboxylic acids | Consistent with lactic acidosis and ketosis |
