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Glycogen storage disease

Overview

Classification

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

Pathophysiology

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]

Glycogen storage disease

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[1][2][3][4][5][6] 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[7][8][9][10][11][12][13][14][15] Pompe disease Infantile onset Acid alpha-glucosidase GAA gene Autosomal recessive 17q25 - + + + + +
  • Elevated LDH
  • Elevated liver aminotransferases
  • Elevated urinary glc4
Late onset Autosomal recessive - + + + + +/-
Glycogen storage disease type III[16][17][18][19][20][21] 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[22][23][24][25][26] Andersen's disease Branching enzyme  GBE1 gene mutation Autosomal recessive 3p12 +/- + + + + + -
Glycogen storage disease type V[27][28][29][30][31][32][33] McArdle disease Muscle glycogen phosphorylase PYGM gene mutation Autosomal recessive 11q13 - + - - + -
Glycogen storage disease type VI[34][35][36][37][38] 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[39][40][41][42][43][44] Tarui's disease Muscle phosphofructokinase PFKM gene mutation Autosomal recessive 12q13 + + - - + +
Glycogen storage disease type IX[45][35][46] GSD type IXa[47][48][49][50][51] Phosphorylase b kinase (deficiency in liver only) PHKA2 gene mutation X-linked recessive Xp22 + - - + - -
GSD type IXb[52][53][54] Phosphorylase b kinase (deficiency in liver and muscle) PHKB gene mutation Autosomal recessive 16q12 + - - + - -
Glycogen storage disease type X[55][56][57][58] Phosphoglycerate mutase PGAM2 gene mutation Autosomal recessive 7p13 - - - - + -
Glycogen storage disease type XI[59][60][61][62] Lactate dehydrogenase A deficiency Lactate dehydrogenase A LDHA gene mutation Autosomal recessive 11p15 - - - - + -
Glycogen storage disease type XII[63][64][65][66] Aldolase A deficiency Aldolase A ALDOA gene mutation Autosomal recessive 16p11 - + - + - -
Glycogen storage disease type XIII[67] Beta-enolase  ENO3 gene mutation Autosomal recessive 17p13 - + - - + - -
Glycogen storage disease type XIV[68][69] Phosphoglucomutase type 2 PGM1 gene mutation Autosomal recessive 1p31 +/- + - - + -
  • Elevated liver aminotransferases
Glycogen storage disease type 0[70][71][72][73] Lewis' disease Hepatic glycogen synthase GYS2 gene mutation (liver) Autosomal recessive 12p12 + - - - - -

References

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