Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants

Table 1 Critical Sample Laboratory Data of Case 1 (KCNJ11 gene mutation)

Parameter (DOL #26: 2/26/2013)	Laboratory Value	Normal Range
POC Blood glucose	48 mg/dL	70–99 mg/dL
Serum Blood Glucose	58 mg/dL	70–99 mg/dL
Serum Cortisol	23 mcg/dL	7–25 mcg/dL
Serum Growth Hormone	4.6 ng/mL	0–7 ng/mL
Serum Insulin	16.3 mcIU/mL	2–18 mcIU/mL
Beta Hydroxybutyrate	Less than 100	0–269 mcmol/L
Urinary Ketones	N/A	N/A
Serum Lactic Acid	1 mmol/L	0.7–2.1 mmol/L
Serum Pyruvic Acid	0.08 mmol/L	0.08–0.16 mmol/L
Free Fatty Acids	Not collected	N/A
Plasma Acyl carnitine profile^a	Normal
Urine Organic Acids^a	Normal
Serum Ammonia^a	10 mcmol/L	10–62 mcmol/L
Serum Amino Acid Profile^a	Normal	N/A

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