glycogen storage disease type-I (von Gierke type glycogen storage disease)

Pathology

• excessive accumulation of glycogen in liver
• hepatomegaly, kidney enlargement
• type 1B is characterized by impairment of terminal steps of glycogenolysis & gluconeogenesis

Genetics

• associated with defects in G6PC gene
• associated with defects in SLC37A4 type 1B, type 1C, type 1D

Clinical manifestations

• hepatomegaly
• growth retardation
• type 1B has a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, & inflammatory bowel disease

Laboratory

• serum glucose:
  • severe fasting hypoglycemia
  • no response of plasma glucose to IM glucagon
• plasma lactate, arterial blood gas: lactic acidosis
• serum uric acid: hyperuricemia
• lipid panel: hyperlipidemia
• SLC37A4 gene mutation

More general terms

• glycogen storage disease (glycogenosis)

Additional terms

• glucose-6-phosphatase (G6Pase, G-6-Pase, G6PC, G6PT)

Database

• OMIM: https://mirror.omim.org/entry/232200
• OMIM: https://mirror.omim.org/entry/232220
• OMIM: https://mirror.omim.org/entry/232240