Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

Table 2

Results of investigations following a 19-hour fast.

Lab blood glucose	2.3 mmol/L
Insulin	<14 pmol/L
C-peptide	<33 pmol/L
Plasma free fatty acids	2673 umol/L
3-Hydroxybutyrate	1205 umol/L
Plasma free carnitine	13.2 umol/L
17 OHP	<1 nmol/L
Plasma amino acids	Normal
Urinary organic acids	Normal