Glycogen storage disease type 1 is an autosomal recessive disorder. Glycogen storage disease type 1a is caused by the deficiency of the glucose-6-phosphatase enzyme.G6PC gene mutation responsible for the glucose-6-phosphatase enzyme deficiency is located on chromosome 17q21. Glycogen storage disease type 1b is caused by a defect in the microsomal glucose-6-phosphate transporter. SLC37A4 gene mutation responsible for the microsomal glucose-6-phosphate transporter is located on chromosome 11q23.
Glycogen storage disease type I causes
Fanconi syndrome causes
Glycogen storage disease type III classification
Glycogen storage disease type II other imaging findings
Glycogen storage disease type III other imaging findings
Glycogen storage disease type I other imaging findings
Galactosemia causes
Glycogen storage disease type III other diagnostic studies