Glycogen Storage Disease IB [Supplementary Concept]
A hereditary autosomal recessive type I glycogen storage disease caused by mutation in the SLC37A4 gene and characterized by short stature, a protruding abdomen, HEPATOMEGALY; NEUTROPENIA and recurrent BACTERIAL INFECTIONS. OMIM: 232220
Date introduced: November 5, 2012
MeSH Unique ID: C562594
Heading Mapped to:
Entry Terms:
- GSD Ib
- Glucose-6-Phosphate Transport Defect