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Information about Glycogen Storage Disease


Classification & external resources
Glycogen
ICD-10E74.0
ICD-9271.0
MeSHD006008
Glycogen storage disease (synonyms: glycogenosis, dextrinosis) is any one of several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

Types

There are nine diseases that are commonly considered to be glycogen storage diseases. (Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems.)

NumberEnzyme deficiencyEponym
GSD type Iglucose-6-phosphatasevon Gierke's disease
GSD type IIacid maltasePompe's disease
GSD type IIIglycogen debrancherCori's disease or Forbe's disease
GSD type IVglycogen branching enzymeAndersen disease
GSD type Vmuscle glycogen phosphorylaseMcArdle disease
GSD type VIliver glycogen phosphorylaseHers's disease
GSD type VIImuscle phosphofructokinaseTarui's disease
GSD type IXphosphorylase kinase-
GSD type XIglucose transporterFanconi-Bickel disease
GSD type 0glycogen synthase-


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Metabolic pathology (, )
Amino acidAromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome) - Sulfur (Homocystinuria, Cystathioninuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Sarcosinemia
CarbohydrateLactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria
Lipid storageSphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease
Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)
Other lipidLipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II)
MineralCu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte
and acid-base balance		Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia
Purine and pyrimidineHyperuricemia - Lesch-Nyhan syndrome - Xanthinuria
PorphyrinAcute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate
BilirubinUnconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
GlycosaminoglycanMucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
GlycoproteinMucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
OtherAlpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia
Glycogen is a polysaccharide of glucose (Glc) which functions as the primary short term energy storage in animal cells. It is made primarily by the liver and the muscles, but can also be made by the brain, uterus, and the vagina.
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For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
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List of ICD-10 codes. The version for 2007 is available online at [1]

Chapter Blocks Title
I Certain infectious and parasitic diseases
II Neoplasms
III Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
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For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
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The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. These codes are in the public domain.

See also


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Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. Created and updated by the United States National Library of Medicine (NLM), it is used by the MEDLINE/PubMed
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MeSH D008661 Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).
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Enzymes are proteins that catalyze (i.e. accelerate) chemical reactions.[1] In enzymatic reactions, the molecules at the beginning of the process are called substrates, and the enzyme converts them into different molecules, the products.
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Glycogen is a polysaccharide of glucose (Glc) which functions as the primary short term energy storage in animal cells. It is made primarily by the liver and the muscles, but can also be made by the brain, uterus, and the vagina.
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MUSCLE (multiple sequence comparison by log-expectation) is public domain, multiple sequence alignment software for protein and nucleotide sequences.
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liver is an organ present in vertebrates and some other animals. It plays a major role in metabolism and has a number of functions in the body, including glycogen storage, decomposition of red blood cells, plasma protein synthesis, and detoxification.
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Identifiers
Symbol GYS2

Entrez 2998
HUGO 4707
OMIM 138571

RefSeq NM_021957
UniProt P54840
Other data
EC number 2.4.1.11
Locus Chr. 12 p12.2-11.
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Glycogen storage disease type I
Classification & external resources

ICD-10 E 74.0
ICD-9 271.0

OMIM 232200
DiseasesDB 5284
MedlinePlus 000338
eMedicine ped/2416   Glycogen storage disease type I or von Gierke's disease
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Glucose 6-phosphatase is an enzyme in the glycogenolysis pathway that removes the phosphate from glucose 6-phosphate. Also is the last step in gluconeogenesis (where the goal is to increase free glucose in the blood due to the body being in the catabolic state).
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MeSH D006009 Glycogen storage disease type II (also called Pompe disease or acid maltase deficiency) is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA) (EC 3.2.1.
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MeSH D006009 Glycogen storage disease type II (also called Pompe disease or acid maltase deficiency) is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA) (EC 3.2.1.
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Glycogen storage disease type III
Classification & external resources

ICD-10 E 74.0
ICD-9 271.0

OMIM 232400
DiseasesDB 5302

eMedicine med/909   ped/479
MeSH D006010 Glycogen storage disease type III
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A debranching enzyme is a molecule that helps facilitate the breakdown of glycogen.

Function

Debranching enzymes work by first transferring three glucose subunits of glycogen from one parallel chain to another. This shortens one linear branch while lengthening another.
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Glycogen storage disease type IV
Classification & external resources

Glycogen
ICD-10 E 74.0
ICD-9 271.0

OMIM 232500
DiseasesDB 5303

eMedicine med/910   ped/97

MeSH C16.320.565.202.449.
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A glycogen branching enzyme is an enzyme taking part in the synthesis of glycogen by adding branches to the glycogen molecule. Glycogen is a branching polymer of large numbers of glucose units linked together.
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MeSH D006012

Glycogen storage disease type V is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of myophosphorylase.

GSD type V is also known as McArdle's disease or muscle phosphorylase deficiency.
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Identifiers
Symbol PYGL

Entrez 5836
HUGO 9725
OMIM 232700

RefSeq NM_002863
UniProt P06737
Other data
EC number 2.4.1.1
Locus Chr. 14 q11.2-24.3 Glycogen phosphorylase is one of the phosphorylase enzymes (EC 2.4.1.1 ).
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MeSH D006013 Glycogen storage disease type VI is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase.

It is also known as "Hers' disease", after H. G. Hers, who characterized it in 1959.
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Identifiers
Symbol PYGL

Entrez 5836
HUGO 9725
OMIM 232700

RefSeq NM_002863
UniProt P06737
Other data
EC number 2.4.1.1
Locus Chr. 14 q11.2-24.3 Glycogen phosphorylase is one of the phosphorylase enzymes (EC 2.4.1.1 ).
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MeSH D006014 Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui's disease[1], is a metabolic disorder with autosomal recessive inheritance, in which deficiency of the M subunit of the phosphofructokinase enzyme
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Phosphofructokinase is a kinase enzyme which acts upon Fructose 6-phosphate. There are two types:
  • Phosphofructokinase 1 - converts to fructose-1,6-bisphosphate
  • Phosphofructokinase 2 - converts to fructose-2,6-bisphosphate

See also


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Phosphorylase kinase is a serine/threonine-specific protein kinase which converts phosphorylase b to Phosphorylase a. One of the enzyme activated by this enzyme is glycogen phosphorylase

Genes

  • Alpha: PHKA1 , PHKA2
  • Beta: PHKB

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Glucose transporters (GLUT or SLC2A family) are a family of membrane proteins found in most mammalian cells.

Function

Glucose is an essential substrate for the metabolism of most cells.
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Glycogen storage disease type 0 is 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 GSDs because it is another defect of glycogen storage
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Identifiers
Symbol GYS2

Entrez 2998
HUGO 4707
OMIM 138571

RefSeq NM_021957
UniProt P54840
Other data
EC number 2.4.1.11
Locus Chr. 12 p12.2-11.
..... Click the link for more information.


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