Table 1.

List of the different GSD. Four of the GSD (GSD-IX, X, XII and XIII) do not have any animal model [17,18,19]. The different GSD types are in bold.

GSD Type/Name	Affected Tissue/Cells	Enzyme Deficiency	Gene Defect	Clinical Features	Animal Model	References
0a	Liver	Liver Glycogen synthase	GYS2	Postprandial hyperglycaemia, fasting hypoglycemia, hyperketonemia.	Yes	[12,16,20]
0b	Muscle	Muscle glycogen synthase	GYS1	Cardiomyopathy, exercise intolerance.	Yes	[21,22]
Ia/Von Gierke disease	Liver, kidney	Glucose-6-phosphatase (G6Pase)	G6PC	Fasting hypoglycemia, hepatomegaly, lactic acidemia, hypertriglyceridemia, hyperuricemia and growth retardation.	Yes	[15,23,24,25,26,27,28]
Ib	Liver, kidney, leukocytes	Glucose-6-phosphate transporter T1 (G6PT)	SLC37A4	In addition of Ia: neutropenia and neutrophil dysfunction that predispose to recurrent infections. Kidney and renal disease, splenomegaly and hepatocellular adenoma.	Yes	[12,16,29,30]
II/Pompe disease	All (Liver, skeletal muscle, leukocytes, fibroblast, amniocytes)	α-1-4-glucosidase (Acid maltase/GAA)	GAA	Lysosomal storage disease. Cardiomyopathy, respiratory failure, muscular weakness, hypotonia.	Yes	[12,13,16,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48]
IIIa/Cori disease	Liver, skeletal and cardiac muscle	Glycogen debranching enzyme (GDE)	AGL	Hepatomegaly, fasting hypoglycemia, hyperlipidemia, muscle weakness, growth retardation, myopathy and cardiomyopathy. Osteoporosis and polycystic ovaries.	Yes	[49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65]
IIIb	Liver	Glycogen debranching enzyme (GDE)	AGL	As type IIIa but no muscle weakness.	Yes
IIIc	Liver, skeletal and cardiac muscle	Glycogen debranching enzyme (GDE)	AGL	Selective loss of glucosidase.	Yes
IIId	Liver, skeletal and cardiac muscle	Glycogen debranching enzyme (GDE)	AGL	Selective loss of transferase.	Yes
IV/Andersen disease	Liver, skeletal muscle	Glycogen branching enzyme (GBE)	Gbe1	Altered growth, cognitive impairment, portal hypertension, hepatosplenomegaly and progressive liver cirrhosis. Myopathy resembling muscular dystrophy with difficulty walking and proximal limb weakness.	Yes	[16,23,66]
V/McArdle disease	Skeletal muscle	Muscle glycogen phosphorylase enzyme	PYGM	Exercise intolerance, muscle cramps, pain, crisis of early fatigue and contracures. Rhabdomyolysis (50% of cases), hyperckemia, myoglobinuria may lead to acute renal failure. Second-wind phenomenon.	Yes	[67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85]
VI/Hers disease	Liver	Liver Glycogen phosphorylase	PYGL	Hepatomegaly, growth retardation, hypoglycemia, ketosis as well as liver fibrosis.	Yes	[86,87,88,89,90,91,92,93]
VII/Tarui disease	Skeletal muscle, leukocytes	Muscle Phosphofructo-1-kinase enzyme	PFKM	Exercise intolerance, muscle cramps, pain, nausea and vomiting. Hyperckemia, hyperuricaemia, reticulocytosis, and increased serum bilirubin. Haemolytic anemia.	Yes	[56,94,95,96,97,98,99,100]
IX	Liver, Muscle	Phosphorylase-b-kinase	PHKA, PHKA2, PHKAB, PHKAG1, PHKG2, PHKD	Growth retardation, hepatomegaly. Mild hypertriglyceridemia, hypercholesterolemia, and elevated serum transaminase levels may be present.	No	[12,14]
X	Skeletal muscle	Muscle phosphoglycerate mutase	PGAM2	Muscle cramping, rhabdomyolysis, and myoglobinuria	No	[17]
XII	Skeletal muscle and leukocytes	Aldolase A	ALDOA	Hemolytic anemia, rhabdomyolysis and myoglobinuria.	No	[18]
XIII	Skeletal muscle	β-enolase	ENO3	Exercise intolerance, myalgias and mildly hyperckemia.	No	[19]
XV	Skeletal and cardiac muscle	glycogenin-1	GYG1	Muscle weakness and wasting and cardiac arryhthmias associated with PG accumulation.	Yes	[101,102,103,104,105]