Immune remodulation in pediatric inherited metabolic liver diseases

Table 1 Classification of glycogen storage diseases and their mutation sites

Condition	Gene(s)	Enzyme(s) or transporter	Inheritance
GSD 0a	GYS2	Hepatic glycogen synthase	AR
GSD 0b	GYS1	Muscle glycogen synthase	AR
GSD I, Von Gierke disease	G6PC1 (GSDIa) and SLC37A4 (GSD Ib)	G6Pase (GSD Ia) and G6PT (GSD Ib)	AR
GSD II, Pompe disease	GAA	Acid alpha-glucosidase	AR
GSD III (Cori disease; Forbes disease)	AGL	Glycogen debranching enzyme	AR
GSD IV (Andersen disease)	GBE1	Glycogen branching enzyme	AR
GSD V (McArdle disease)	PYGM	Myophosphorylase	AR
GSD VI (Hers disease)	PYGL	Liver glycogen phosphorylase	AR
GSD VII (Tarui disease)	PFKM	Muscle phosphofructokinase	AR
Hepatic GSD IX	PHKA2 (GSD IX α2), PHKB (GSD IX β), PHKG2 (GSD IX γ2)	Liver phosphorylase kinase α2 (GSD IX α2), liver and muscle phosphorylase kinase β2 (GSD IX β), and phosphorylase kinase γ2 (hepatic and testis isoform) (GSD IX γ2)	X-linked (GSD IX α2; females can be affected depending on X inactivation), AR (GSD IX β, and GSD IX γ2)
Muscle GSD IX	PHKA1	Alpha subunit of muscle phosphorylase kinase (GSD IX α1)	X-linked
GSD X	PGAM2	Muscle phosphoglycerate mutase	AR
GSD XI	LDHA	Lactate dehydrogenase A	AR
GSD XII	ALDOA	Red blood cell fructose-1,6-bisphosphate aldolase A	AR
GSD XIII	ENO3	Beta-enolase	AR
GSD XV	GYG1	Glycogenin 1 (muscle isoform)	AR
PGM1-CDG (formerly GSD XIV)	PGM1	Phosphoglucomutase 1	AR
FBS (also called GSD XI), Fanconi-Bickel syndrome	SLC2A2	GLUT2	AR
PGK deficiency	PGK1	Phosphoglycerate kinase	X-linked

GSD: Glycogen storage disease.