Glycogen storage disease

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Glycogen storage disease



Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Glycogen storage disease type VI
Glycogen storage disease type VII


Differentiating Glycogen storage disease

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2], Cafer Zorkun, M.D., Ph.D. [3]

Synonyms and keywords:Glycogenosis; dextrinosis


Glycogen storage diseases are 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. A total of fourteen glycogen storage diseases have been described which differ from each other on the basis of genotypic and phenotypic heterogenity. Most of the glycogen storage diseases follow an autosomal recessive mode of inheritence. In 1929, Von Gierke was the first to describe glycogen storage disease in a 8 year old girl.[1] Glucose-6-phosphatase deficiency found in glycogen storage disease type I is identified as first specific enzymopathy in a hereditary disorder.[2] Majority of glycogen storage diseases are due to deficiency of specific enzymes involved in metabolism of glycogen either in liver or muscle or both. These deficiencies commonly result in excess of glycogen which deposits in several tissues in the body. There are a wide variety of clinical manifestations of glycogen storage diseases. However, common clinical manifestations of various glycogen storage diseases include hypoglycemia, hypotonia, muscle weakness, hepatomegaly, cardiomegaly, elevated creatine kinase, hyperlipidemia, myoglobinuria, and elevated liver aminotransferases.


Metabolic Pathway

Metabolic pathways showing defects in various glycogen storage diseases, (ɔ) Image courtesy of, by "Dr. Anmol Pitliya"

Gross Pathological Findings

Images shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission. © PEIR, University of Alabama at Birmingham, Department of Pathology

Microscopic Pathological Findings

Images shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission. © PEIR, University of Alabama at Birmingham, Department of Pathology

Differentiating various Glycogen Storage Diseases

Differentiating Glycogen Storage Diseases
Glycogen storage disease Enzyme deficiency Genetics History and symptoms Physical examination Laboratory findings Imaging Other features
Gene mutation Inheritance Chromosome Hypoglycemia Muscle weakness Hypotonia Hepatomegaly Elevated CK Cardiomegaly
Glycogen storage disease type I[3][4][5][6][7][8][9] Von Gierke's disease GSD type Ia Glucose-6-phosphatase G6PC gene mutation  Autosomal recessive 17q21 + + + + - -
GSD type Ib  Microsomal glucose-6-phosphate transporter  SLC37A4 gene mutation Autosomal recessive 11q23
Glycogen storage disease type II[10][11][12][13][14][15][16][17][18] Pompe disease Infantile onset Acid alpha-glucosidase GAA gene Autosomal recessive 17q25 - + + + + +
Late onset Autosomal recessive - + + + + +/-
Glycogen storage disease type III[19][20][21][22][23][24] Cori disease GSD type IIIa Debranching enzyme (deficiency in muscle and liver) AGL gene mutation  Autosomal recessive 1p21 + + + + + +
GSD type IIIb Debranching enzyme (deficiency in liver only) Autosomal recessive
Glycogen storage disease type IV[25][26][27][28][29] Andersen's disease Branching enzyme  GBE1 gene mutation Autosomal recessive 3p12 +/- + + + + + -
Glycogen storage disease type V[30][31][32][33][34][35][36] McArdle disease Muscle glycogen phosphorylase PYGM gene mutation Autosomal recessive 11q13 - + - - + -
Glycogen storage disease type VI[37][38][39][40][41] Hers' disease Autosomal Liver glycogen phosphorylase  PYGL gene mutation Autosomal recessive 14q22 +/- + +/- + - -
X-linked  PYGL gene mutation X-linked recessive X
Glycogen storage disease type VII[42][43][44][45][46][47] Tarui's disease Muscle phosphofructokinase PFKM gene mutation Autosomal recessive 12q13 + + - - + +
Glycogen storage disease type IX[48][38][49] GSD type IXa[50][51][52][53][54] Phosphorylase b kinase (deficiency in liver only) PHKA2 gene mutation X-linked recessive Xp22 + - - + - -
GSD type IXb[55][56][57] Phosphorylase b kinase (deficiency in liver and muscle) PHKB gene mutation Autosomal recessive 16q12 + - - + - -
Glycogen storage disease type X[58][59][60][61] Phosphoglycerate mutase PGAM2 gene mutation Autosomal recessive 7p13 - - - - + -
Glycogen storage disease type XI[62][63][64][65] Lactate dehydrogenase A deficiency Lactate dehydrogenase A LDHA gene mutation Autosomal recessive 11p15 - - - - + -
Glycogen storage disease type XII[66][67][68][69] Aldolase A deficiency Aldolase A ALDOA gene mutation Autosomal recessive 16p11 - + - + - -
Glycogen storage disease type XIII[70] Beta-enolase  ENO3 gene mutation Autosomal recessive 17p13 - + - - + - -
Glycogen storage disease type XIV[71][72] Phosphoglucomutase type 2 PGM1 gene mutation Autosomal recessive 1p31 +/- + - - + -
Glycogen storage disease type 0[73][74][75][76] Lewis' disease Hepatic glycogen synthase GYS2 gene mutation (liver) Autosomal recessive 12p12 + - - - - -

Heart & Liver in Glycogen Storage Disease



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