Table 1.

Causes to ketotic hypoglycemia in children

	Gene or chromosome	Inheritance
Hormonal
Growth hormone deficiency, or resistance	Genetic or acquired	Variable
ACTH deficiency or resistance; cortisol deficiency	Genetic or acquired	Variable
Glucagon deficiency*	GCG, DBH	N/D
Dopamine beta-hydroxylase deficiency*	GCG, DBH	N/D
Metabolic
Glycogen storage disease (GSD)
GSD 0; glycogen synthase deficiency	GYS2	AR
GSD III; glycogen debranching enzyme deficiency	AGL	AR
GSD VI; glycogen phosphorylase deficiency	PYGL	AR
GSD IX; phosphorylase kinase subunit deficiencies	PHKA2, PHKB, PHKG2	X-linked, AR
Glucose metabolism and transport
Phosphoglucomutase I deficiency	PMG1	AR
Pyruvate carboxylase deficiency	PC	AR
Organic acidemias
Maple syrup urine disease, propionic aciduria, methylmalonic aciduria	Multiple genes	AR
Ketone body transport and metabolism
Monocarboxylase transporter 1 defect	SLC16A1 (MCT1)	AR,AD
Ketolysis
Succinyl CoA oxoacid transferase deficiency	SCOT	AR
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency	ACAT1	AR
Syndromes
Silver–Russel syndrome	11p15 or 7**	Mostly sporadic
Prader–Willi syndrome	15q11-q13***	Mostly sporadic
Fanconi–Bickel syndrome	SLC2A2 (GLUT2)	AR
Secondary KH to chronic malnutrition, severe malaria, other chronic diseases	-	-
Idiopathic ketotic hypoglycemia
Physiological KH in prolonged fasting or acute illness	-	-
Pathological KH	-	-
IGF2BP1 deficiency*	IGF2BP1	N/D
Sodium glucose co-transporter 2 defect*	SLC5A2	N/D
PEP carboxykinase 1 and G-6P catalytic transcriptional induction*	NCOR1	N/D
Mitosis gene A-related kinase 11 defect*	NEK11	N/D

AD autosomal dominant, AR autosomal recessive, N/D no data, PEP phosphoenolpyruvate, G-6P glucose 6-phosphate. The list is not fully inclusive

*Suggested, not well-established causes to KH

**Several mechanisms, rare other mechanisms, or unknown

***Paternal deletion, maternal uniparental disomy, or imprinting defect