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.

Look at other dictionaries:

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  • glycogen storage disease — noun : any of several metabolic disorders that are characterized especially by abnormal deposits of glycogen in tissue, are caused by enzyme deficiencies in glycogen metabolism, and are usually inherited as an autosomal recessive trait * * *… …   Useful english dictionary

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  • Glycogen phosphorylase — Phosphorylase The crystal structure of the rabit muscle glycogen phosphorylase AMP complex. AMP allosteric site (yellow), phosporylated Ser14 (orange), glycogen binding site (blue), catalytic site (red).[1] …   Wikipedia

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