Table 2. [MODY: Management by Genetic Cause]. - GeneReviews®

Gene	Pathophysiology	Treatment	References
ABCC8	ATP-sensitive potassium channel dysfunction			Sulfonylureas		Bowman et al [2012]
APPL1	Insulin secretion defect		X	X	X	Prudente et al [2015]
BLK	Insulin secretion defect		X	X	X	Borowiec et al [2009]
CEL	Pancreatic endocrine & exocrine dysfunction			X	X	Raeder et al [2006]
GCK	β-cell dysfunction (glucose-sensing defect)	Except possibly in pregnancy ¹				Stride et al [2014], Chakera et al [2015]
HNF1A	β-cell dysfunction; mainly insulin secretory defect			Low-dose sulfonylureas or meglitinides; GLP-1 agonists also used	May be required ²	Shepherd et al [2003], Tuomi et al [2006], Østoft et al [2014], Bacon et al [2016b]
HNF1B	β-cell dysfunction			A minority respond to sulfonylureas.	Commonly needed	Dubois-Laforgue et al [2017]
HNF4A	β-cell dysfunction (mainly insulin secretory defect)			Sensitive to sulfonylureas		Pearson et al [2005]
INS	β-cell dysfunction		X	X	X ³	Molven et al [2008], Boesgaard et al [2010]
KCNJ11	ATP-sensitive potassium channel dysfunction		X	Sulfonylureas	X	Bonnefond et al [2012], Liu et al [2013]
KLF11	Decreased glucose sensitivity of β-cells			X	X	Neve et al [2005]
NEUROD1	β-cell dysfunction		X	X	X	Malecki et al [1999], Kristinsson et al [2001]
PAX4	β-cell dysfunction		X	X	X	Mauvais-Jarvis et al [2004], Plengvidhya et al [2007]
PDX1	β-cell dysfunction		X	X	X	Clocquet et al [2000], Fajans et al [2010]

Gene

Pathophysiology

Treatment

References

None

Diet

OAD

Insulin

ABCC8

ATP-sensitive potassium channel dysfunction

Sulfonylureas

Bowman et al [2012]

APPL1

Insulin secretion defect

Prudente et al [2015]

BLK

Insulin secretion defect

Borowiec et al [2009]

CEL

Pancreatic endocrine & exocrine dysfunction

Raeder et al [2006]

GCK

β-cell dysfunction (glucose-sensing defect)

Except possibly in pregnancy ¹

Stride et al [2014], Chakera et al [2015]

HNF1A

β-cell dysfunction; mainly insulin secretory defect

Low-dose sulfonylureas or meglitinides; GLP-1 agonists also used

May be required ²

Shepherd et al [2003], Tuomi et al [2006], Østoft et al [2014], Bacon et al [2016b]

HNF1B

β-cell dysfunction

A minority respond to sulfonylureas.

Commonly needed

Dubois-Laforgue et al [2017]

HNF4A

β-cell dysfunction (mainly insulin secretory defect)

Sensitive to sulfonylureas

Pearson et al [2005]

INS

β-cell dysfunction

X ³

Molven et al [2008], Boesgaard et al [2010]

KCNJ11

ATP-sensitive potassium channel dysfunction

Sulfonylureas

Bonnefond et al [2012], Liu et al [2013]

KLF11

Decreased glucose sensitivity of β-cells

Neve et al [2005]

NEUROD1

β-cell dysfunction

Malecki et al [1999], Kristinsson et al [2001]

PAX4

β-cell dysfunction

Mauvais-Jarvis et al [2004], Plengvidhya et al [2007]

PDX1

β-cell dysfunction

Clocquet et al [2000], Fajans et al [2010]

From: Maturity-Onset Diabetes of the Young Overview

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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