Table 1. Clinical and molecular characteristics of MODY subtypes.

MODY gene	Chromosomal location	Frequency (% from MODYs)	Pathophysiology	Other features	Treatment
HNF4A	20q13	5	β-Cell dysfunction	Neonatal hyperinsulinemia, low triglycerides	Sensitive to sulfonylurea
GCK	7p13	15-20	β-Cell dysfunction (glucose sensing defect)	Fasting hyperglycemia from newborn	Diet
HNF1A	12q24	30-50	β-Cell dysfunction	Glycosuria	Sensitive to sulfonylurea
PDX1/IPF1	13q12	<1	β-Cell dysfunction	Homozygote: pancreatic agenesis	Diet or OAD or insulin
HNF1B	17q12	5	β-Cell dysfunction	Renal anomalies, genital anomalies, pancreatic hypoplasia	insulin
NEUROD1	2q31	<1	β-Cell dysfunction	Adult onset diabetes	OAD or insulin
KLF11	2p25	<1	β-Cell dysfunction	Similar to type 2 diabetes mellitus	OAD or insulin
CEL	9q34	<1	Pancreas endocrine and exocrine dysfunction	Exocrine insufficiency, lipomatosis	OAD or insulin
PAX4	7q32	<1	β-Cell dysfunction	Possible ketoacidosis	Diet or OAD or insulin
INS	11p15	<1	Insulin gene mutation	Can also present PNDM	OAD or insulin
BLK	8p23	<1	Insulin secretion defect	Overweight, relative insulin secretion defect	Diet or OAD or insulin
ABCC8	11p15	<1	ATP-sensitive potassium channel dysfunction	Homozygote: permanent neonatal diabetes; heterozygote: transient neonatal diabetes	OAD (sulfonylurea)
KCNJ11	11p15	<1	ATP-sensitive potassium channel dysfunction	Homozygote: neonatal diabetes	Diet or OAD or insulin

MODY, maturity-onset diabetes of the young; HNF4A, hepatocyte nuclear factor 4 α; GCK, glucokinase; PDX1, pancreatic and duodenal homeobox 1; IPF1, insulin promoter factor 1; OAD, oral antidiabetic agents; NEUROD1, neurogenic differentiation 1; KLF11, Kruppel-like factor 11; CEL, carboxyl ester lipase; PAX4, paired-box-containing gene 4; INS, insulin; PNDM, permanent neonatal diabetes; BLK, B-lymphocyte kinase; ABCC8, ATP-binding cassette, subfamily C (CFTR/MRP), member 8; ATP, adenosine triphosphate; KCNJ11, potassium channel, inwardly rectifying subfamily J, member 11.