词条 | Glycogen storage disorders |
释义 | 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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