Catalog

Glycogen storage disease due to glucose-6-phosphate transport defect

No MMS code

Link to WHO Definition

Glycogen storage disease due to glucose-6-phosphate transport defect – http://id.who.int/icd/entity/1944306590

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 .