Table 1.

Related genes and associated clinical characteristics and treatments of MODYs

Gene	Pathophysiology	Clinical feature	Frequency of microvascular complication	Treatment
HNF4A	β-cell dysfunction	Macrosomia	Frequent	Sensitive to SU
		Transient neonatal hyperinsulinemic hypoglycemia
		Progressive insulin secretory defect
GCK	β-cell dysfunction (glucose sensing defect)	Stable mild fasting hyperglycemia at birth	Rare	Diet and exercise
		Typically asymptomatic
HNF1A	β-cell dysfunction; mainly insulin secretory defect	Transient neonatal hyperinsulinemic hypoglycemia	Frequent	Sensitive to SU
		Progressive insulin secretory defect
		Renal glycosuria
PDX1	β-cell dysfunction	Pancreatic agenesis	Unknown	Diet/OAD/insulin
		Overweight/obesity in some
HNF1B	β-cell dysfunction	IUGR	Frequent	Insulin
		Renal anomalies
		Urogenital tract anomalies
		Pancreatic hypoplasia
NEUROD1	β-cell dysfunction	Homozygote: permanent neonatal diabetes and neurological abnormalities	Unknown	OAD/insulin
		Overweight/obesity in some
KLF11	Decreased glucose sensitivity of β-cell	Similar to type 2 diabetes mellitus	Unknown	OAD/insulin
CEL	Pancreatic endocrine and exocrine dysfunction	Pancreatic atrophy → exocrine pancreatic insufficiency	Unknown	OAD/insulin
		Fibrosis & lipomatosis → diabetes
PAX4	β-cell dysfunction	Possible ketoacidosis	Unknown	Diet/OAD/insulin
INS	β-cell dysfunction	Permanent neonatal diabetes	Unknown	Diet/OAD/insulin
BLK	Insulin secretion defect	Overweight/obesity in some	Unknown	Diet/OAD/insulin
ABCC8	ATP-sensitive potassium channel dysfunction	Similar to HNF1A- and HNF4A-MODY	Unknown	Sensitive to SU
KCNJ11	ATP-sensitive potassium channel dysfunction	Transient and permanent neonatal diabetes	Unknown	OAD/insulin
		Overweight/obesity in some
APLL1	Insulin secretion defect	Overweight/obesity in some	Unknown	Diet/OAD/insulin

MODY, maturity-onset diabetes of young; SU, sulfonylurea; OAD, oral antidiabetic agents; IUGR, intrauterine growth restriction.