Abnormally high blood sugar levels are relatively common among patients with type I diabetes, but<unk>  is rare. This suggests that high blood sugar is not the only factor necessary to cause the syndrome. A study of an adolescent boy with severe<unk>  found a mutation in PHKG2, which is the catalytic subunit of the enzyme glycogen phosphorylase kinase (PhK). PhK is a large enzyme complex responsible for the activation of glycogen phosphorylase, the first enzyme in the pathway of glycogen metabolism. This child's mutation inhibited glycogen metabolism and caused increased glycogen deposition in the liver. The child's mother had the mutant enzyme, but no liver enlargement. The child's father had type 1 diabetes. Neither parent had<unk> . The study suggests that both the mutant enzyme and an abnormally high blood glucose level were necessary to cause<unk> .
Mauriac syndrome
Barakat syndrome
Warkany syndrome
Sack–Barabas syndrome
Stiff skin syndrome
Say syndrome
Banki syndrome
Myhre syndrome