Table 2.
| Diagnostic criteria | • Plasma glucose <3 mmol/l with: • Detectable serum insulin • Detectable C-peptide (In endogenous HH) • Suppressed/low serum ketone bodies • Suppressed/low serum fatty acids |
| Supportive evidences (when diagnosis is in doubt or difficult): | • Glucose infusion rate > 8 mg/kg/min • Positive glycaemic (>1.5 mmol/L) response to intramuscular/ intravenous glucagon • Positive glycaemic response to a subcutaneous/intravenous dose of octreotide • Low serum levels of IGFBP1 [insulin negatively regulates the expression of IGFBP1] • Suppressed branch chain (leucine, isoleucine and valine) amino acids • Provocation tests (leucine loading or exercise testing) may be needed in some patients • Supressed/undetectable urine ketone • Normal lactic acid • Normal plasma hydroxybutyrylcarnitinea • Normal ammoniab • Appropriate counterregulatory hormone responsec -Cortisol > 20 mcg/dl (500 nmol/l) -Growth hormone > 7 ng/ml In the neonatal period if the hypoglycaemia persists for >48 h this will require investigation |
aElevated in HH due to HADH gene mutation, bElevated in hyperinsulinism-hyperammonemia syndrome (HI-HA) due to GLUD1 gene mutation, cCounterregulatory hormone response may be blunted in spontaneous, particularly recurring hypoglycaemia