Glycogen storage disease type 0

Glycogen storage disease type 0
Classification and external resources
OMIM	240600 611556
DiseasesDB	31944
eMedicine	ped/873

Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme. Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the Glycogen storage diseases because it is another defect of glycogen storage and can cause similar problems. Mutations in the liver isoform, GYS2, causes fasting hypoglycemia, high blood ketones, increased free fatty acids and low levels of alanine and lactate. Conversely, feeding in these patients results in hyperglycemia and hyperlactatemia.

There are two versions: the muscle version involves GYS1 and the liver version involves GYS2.^[1]

References

↑ Orho M, Bosshard NU, Buist NR, et al. (August 1998). "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0". J. Clin. Invest. 102 (3): 507–15. doi:10.1172/JCI2890. PMC 508911. PMID 9691087.

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73–E74, 271)

Sucrose, transport
(extracellular)

Disaccharide catabolism	Congenital alactasia Sucrose intolerance

Monosaccharide transport	Glucose-galactose malabsorption Inborn errors of renal tubular transport (Renal glycosuria) Fructose malabsorption

Hexose → glucose

Monosaccharide catabolism

fructose:	Essential fructosuria Fructose intolerance

galactose/galactosemia:	GALK deficiency GALT deficiency/GALE deficiency

Glucose ⇄ glycogen

Glycogenesis

Glycogenolysis

extralysosomal:	GSD type V, McArdle, muscle glycogen phosphorylase/GSD type VI, Hers', liver glycogen phosphorylase GSD type III, Cori's, debranching

lysosomal/LSD: GSD type II, Pompe's, glucosidase

Glucose ⇄ CAC

Glycolysis	MODY 2/HHF3 GSD type VII, Tarui's, phosphofructokinase Triosephosphate isomerase deficiency Pyruvate kinase deficiency

Gluconeogenesis	PCD Fructose bisphosphatase deficiency GSD type I, von Gierke, glucose 6-phosphatase

Pentose phosphate pathway

Other

External links

Asociación Española de Enfermos de Glucogenosis

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