View source for Glycogen storage disease

{| class="wikitable"
!Class
!Defect
!Clinical Clues
!Diagnosis
!Therapy
|-
|GSD 0a
|Glycogen synthase 2 deficiency in liver
|
* Ketotic hypoglycemia
* No hepatomegaly
|
* Liver biopsy and enzyme testing
* DNA testing
|
* Uncooked cornstarch
* Commercial glucose polymers (eg, Glycosade)
* Liver transplantation
|-
|GSD 0b
|muscle glycogen synthase deficiency
|
* Cardiomyopathy
* Exercise intolerance
* Weakness
|
* Muscle biopsy (glycogen depletion)
* Enzyme assay
* DNA testing
|
* No specific treatment
|-
|GSD Ia (von Gierke disease)
|glucose-6-phosphatase deficiency
| rowspan="2" |
* Ketotic hypoglycemia
* Hepatomegaly
| rowspan="2" |
* DNA testing
* Liver biopsy
* Enzyme assay
| rowspan="2" |
* Uncooked cornstarch
* Allopurinol
* Granulocyte colony-stimulating factor (G-CSF)
* Commercial glucose polymers (eg, Glycosade)
* Liver transplantation
|-
|GSD Ib
|q transport defect
|-
|GSD II (Pompe disease)
|lysosomal acid maltase deficiency
|
* Hypotonia
* Muscle weakness
* Hypertrophic cardiomyopathy
* Rhabdomyolysis
|
* Fibroblast, leukocyte, muscle, or liver enzyme assay
* DNA testing
|
* Enzyme replacement therapy
* Commercial glucose polymers (eg, Glycosade)
* Liver transplantation
|-
|GSD IIb (Danon disease)
|lysosome-associated membrane protein 2 (LAMP2) deficiency
|
* Hypotonia
* Hypertrophic cardiomyopathy
* Rhabdomyolysis
|
* Muscle biopsy
* DNA testing
|
* No specific treatment
|-
|GSD III
|glycogen debrancher deficiency
|
* Ketotic hypoglycemia
* Hepatomegaly
|
* Fibroblast or liver enzyme assay
* DNA testing
|
* Uncooked cornstarch
* Commercial glucose polymers (eg, Glycosade)
* Liver transplantation
|-
|GSD IV (Andersen disease)
|glycogen branching enzyme deficiency
|
* Hepatomegaly
* Cirrhosis
* Rare neuromuscular presentations, such as fetal akinesia sequence, myopathy, axonal neuropathy, adult polyglucosan body disease
|
* Fibroblast, muscle, or liver biopsy
* DNA testing
|
* Commercial glucose polymers (eg, Glycosade)
* Liver transplantation
|-
|GSD V (McArdle disease)
|muscle phosphorylase deficiency
|
* Fatigability
* Myoglobinuria
* Rhabdomyolysis
|
* Muscle biopsy
* Muscle enzyme assay
* DNA testing
|
* Sucrose prior to exercise
|-
|GSD VI (Hers disease)
|liver phosphorylase deficiency
|
* Hepatomegaly
* Mild hypoglycemia
|
* Liver biopsy and enzyme assay
* DNA testing
|
* Commercial glucose polymers (eg, Glycosade)
* Liver transplantation
|-
|GSD VII (Tarui disease)
|phosphofructokinase deficiency in muscle
|
* Fatigability
* Myoglobinuria
* Rhabdomyolysis
|
* Muscle enzyme assay
* DNA testing
|
* No specific treatment
|-
|Phosphoglycerate kinase deficiency
|phosphoglycerate kinase deficiency
|
* Hemolysis
* Fatigability
* Myoglobinuria
* CNS dysfunction
* Rhabdomyolysis
|
* Muscle/RBC enzyme assay
* DNA testing
|
* Bone marrow transplantation
|-
|GSD IX
|phosphorylase kinase deficiency
| rowspan="5" |
* Hepatomegaly
* Mild hypoglycemia
* Fatigability
* Exercise intolerance
| rowspan="5" |
* Liver/muscle biopsy
* Enzyme assay
* DNA testing
| rowspan="5" |
* Commercial glucose polymers (eg, Glycosade)
* Liver transplantation
|-
|GSD IXa1 (GSD VII)
|alpha-2 subunit defect in liver
|-
|GSD IXb
|beta subunit defect in liver
|-
|GSDIXc
|gamma subunit defect in liver and muscle
|-
|GSD IXd
|alpha subunit defect in muscle
|-
|GSD X
|phosphoglycerate mutase deficiency
|
* Fatigability
* Myoglobinuria
* Exercise intolerance
* Rhabdomyolysis
|
* Muscle biopsy and enzyme assay
* DNA testing
|
* No specific treatment
|-
|GSD XI
|lactate dehydrogenase A (LDHA) deficiency and lactate dehudogenase B (LDHB) deficiency
|
* Fatigability
* Myoglobinuria
* Rhabdomyolysis
|
* Muscle or RBC enzyme assay
* DNA testing
|
* No specific treatment
|-
|Fanconi-Bickel syndrome
|GLUT2 deficiency
|
* Growth retardation
* Renal Fanconi syndrome
* Galactosemia
|
* Clinical features
* DNA testing
|
* Frequent, small meals
* Uncooked cornstarch or nocturnal enteral nutrition
* Electrolytes, carnitine, and vitamin D as needed
* Restriction of galactose
|-
|GSD XII
|aldolase A deficiency
|
* Hemolysis
* Jaundice
* Myoglobinuria
* Muscle weakness
* Fatigability
* Rhabdomyolysis
|
* Muscle or RBC enzyme assay
* DNA testing
|
* No specific treatment
|-
|GSD XIII
|beta-enolase deficiency in muscle
|
* Exercise intolerance
* Increased CPK
* Rhabdomyolysis
|
* Muscle biopsy
* Enzyme assay
* DNA testing
|
* No specific treatment
|-
|GSD XIV
|phosphoglucomutase 1 deficiency in muscle
|
* Exercise intolerance
* Myoglobinuria
* Increased CPK
* Rhabdomyolysis
* Myoglobinuria
|
* Muscle biopsy
* Enzyme assay
* DNA testing
|
* No specific treatment
|-
|GSD XV
|glycogenin 1 deficiency in muscle
|
* Muscle weakness
* Arrhythmias
|
* Muscle biopsy (glycogen depletion)
* DNA testing
|
* No specific treatment
|}
[[Category:Genetic syndromes]]