Congenital hyperinsulinism: current trends in diagnosis and therapy

Table 2 Summary of genetic causes of isolated HI

	Gene	Protein	Inheritance	Diazoxide-Resp.	Histology	Comment
K _ATP Channel	ABCC8	SUR1	AR	No	F or D
			AD	Usually	D
	KCNJ11	Kir6.2	AR	No	F or D
Enzymes/Transporters	GLUD1	GDH	AD or DN	Yes	D	HIHA syndrome
	GCK	GCK	AD or DN	Usually	D	MODY 2
	HADH	SCHAD	AR	Yes	D
	SLC16A1	MCT1	AD	Usually	D	EIHI
	UCP2	UCP2	AD	Yes	D
Transcription Factor	HNF4A	HNF4A	AD or DN	Yes	D	MODY 1

AR: autosomal recessive; AD: autosomal dominant; DN: De Novo; F: Focal Form; D: Diffuse Form; HI/HA: hyperammonemia/hyperinsulinism syndrome; EIHI: Exercise-induced hyperinsulinism; GDH: Glutamate Dehydrgenase; GCK: Glucokinase; HADH: Hydroxy-Acyl-CoA Dehydrogenase; MCT1: Monocarboxylate transporter 1; MODY: Maturity-onset diabetes of the young: UCP2: Uncoupling protein 2.

ISSN: 1750-1172