Intrauterine Growth Retardation and Nonalcoholic Fatty Liver Disease in Children

Table 2

Monogenic defects associated with insulin-resistant dependent IUGR.

Genetic	Defects	Disease	Pathophysiology
Glucokinase (GK)	Heterozigygous mutations	Glucokinase defiency	Low foetal insulin secretion
Insulin promoter factor 1 (IPF1)	Homozigygous mutation	Pancreatic agenesis	Foetal insulin secretion is abolished
Suplphonylurea-receptor1/Kir6 (SUR1/Kir6)	Homozigygous mutation	Nesidioblastosis	Increased insulin secretion
Insulin receptor (IR)	Homozigygous mutation	Leprechaum syndrome	Marked insulin resistance
6q22-q33	Duplication or Paternal isodisomy	Transient neonatal diabetes	Reduced insulin secretion