Glycogen storage disease type 1 due to SLC37A4 mutation
Glycogen storage disease type 1 due to SLC37A4 mutation
Definition
Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.
Also known as glucose-6-phosphate translocase deficiency, glycogen storage disease I caused by mutation in SLC37A4, SLC37A4 glycogen storage disease I — per MONDO