Glycogen storage disease type 1
The disease is split into two subtypes: glycogen storage disease type 1a and type 1b. Type 1a represents a majority of cases and is caused by mutations on gene G6PC. Type 1b is caused by mutations on gene SLC37A4.
Patients must keep a special diet in order to reach normal glucose levels.
E74.00 – Glycogen storage disease, unspecified
7265005 – Glycogen Storage Disease Type 1
Differential Diagnosis & Pitfalls