Glycogen Storage Disease Type Ib

**Semantic type:** Disease or Syndrome

**Definition:** Glycogen storage disease type I that is caused by mutations in the SLC37A4 gene. It is characterized by a deficiency of glucose-6-phosphate translocase. It may be associated with neutropenia resulting in recurrent bacterial infections, inflammatory bowel disease, gingivitis, periodontal disease, and mouth ulcers.

**Synonyms:** - Glycogen Storage Disease Type I non-a