Permanent Neonatal Diabetes in a Patient with a KCNJ11/Q52R Mutation Accompanied by Intermittent Hypoglycemia and Liver Failure

Table 1 Laboratory evaluation of patient SM to determine etiology of hypo- and hyperglycemia.

Analyte	Patient	Normal value
Insulin (pmol/L)
at blood glucose 12.3 mmol/L	6.3	21–136 (fasting)
at blood glucose 1.7 mmol/L	<1.4	21–136 (fasting)
C-peptide (nmol/L)
at blood glucose 12.3 mmol/L	0.07	0.3–1.2 (fasting)
H at 3 mo (%)	5.7	4–6
Pancreatic auto-antibodies (U/L)
GAD	0.64	<0.1
IA2	0.05	<0.1
Cortisol (nmol/L)
baseline	85.5
after 62.5 mcg cortrosyn	717.3	>552
IGF-1 (nmol/L)	<3.3	3.3–32
IGFBP-3 (mg/L)	0.9	1.4–4.4
Free thyroxine (pmol/L)	11.6	10.3–23.2

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