Table 2.

Representative biochemical profiles of patients 1–3.

	Patient 1	Patient 2	Patient 3	Reference range
Age	9 months	4 days	15 months
Glucose (mmol/L)*	2.5	2.7	1.9	3.9–5.5
Insulin (pmol/L)*	Not detectible	Not detectible	Not detectible	<14
C-peptide (nmol/L)*	0.05	0.2	0.227	<0.166**
Urine ketones*	Negative	Negative	Negative	NA
β-Hydroxybutyrate (mmol/L)*	0.024	ND	0.03	>1.8**
Free fatty acids (μmol/L)*	138	‘Not elevated’	153	<720**
Cortisol (nmol/L)*	993	464	323	>497
Growth hormone (μg/L)*	7.5	4.7	8.3	>5
Branched chain amino acids	Normal	Normal	Normal	N/A
Glucagon stimulation test$	Normal	Normal	Normal	See legend§
Glucose infusion rate to maintain euglycaemia (mg/kg/min)	2.4	14$	13$	>8 in CHI in infancy
Triglyceride (mmol/L)	1.1	1.1	1.0	<1.7
IGF1 (ng/mL)	<25	<25	<25	F: 36–170
				M: 27–113
IGFBP3 (µg/mL)	0.9	0.94	0.93	0.8–1.9

Values marked with an asterisk (*) were determined during hypoglycaemia, **cut-offs for differentiation between hypoketotic and physiologic/ketotic response to hypoglycaemia. ^§A normal response to glucagon was defined as a rise in plasma glucose rose by at least 1.7 mmol/L following an intramuscular injection of at least 20 μg/kg glucagon. ^$Glucose infusion rates were not titrated to the minimum requirement.

CHI, congenital hyperinsulinism; ND, not determined.