Glycogen storage disease due to glucose-6-phosphate transport defect (Q100839)
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Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency that may manifest at birth by enlarged liver or, more commonly, between the ages of three to four months by symptoms of fast-induced hypoglycaemia (tremors, seizures, cyanosis, and apnoea) as a result of disturbed glucose homeostasis .
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1944306590 |
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| English | Glycogen storage disease due to glucose-6-phosphate transport defect |
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency that may manifest at birth by enlarged liver or, more commonly, between the ages of three to four months by symptoms of fast-induced hypoglycaemia (tremors, seizures, cyanosis, and apnoea) as a result of disturbed glucose homeostasis . |
