Glycogen storage disorders

Glycogen storage disorders

Table
Glycogen storage disorders (GSDs)
type enzyme defect clinical features
type I (von Gierke disease) glucose-6-phosphatase hypoglycemia, enlarged liver and kidneys, gastrointestinal symptoms, nosebleeds, short stature, gout
type II (Pompe disease) lysosomal acid alpha-glucosidase diminished muscle tone, heart failure, enlarged tongue
type III (Forbe disease, Cori disease) amylo-1,6-glucosidase (debrancher enzyme) hypoglycemia, enlarged liver, cirrhosis, muscle weakness, cardiac involvement
type IV (Andersen disease) brancher enzyme enlarged liver and spleen, cirrhosis, diminished muscle tone, possible nervous system involvement
type V (McArdle disease) myophosphorylase muscle weakness, fatigue, muscle cramps
type VI (Hers disease) liver phosphorylase mild hypoglycemia, enlarged liver, short stature in childhood
type VII (Tarui disease) muscle phosphofructokinase muscle pain, weakness, decreased endurance
type IX phosphorylase kinase mild hypoglycemia, enlarged liver, short stature in childhood, possible muscle weakness and cramps
type 0 liver glycogen synthetase hypoglycemia, possible mild enlarged liver
See as table:

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Universalium. 2010.

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