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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:
a) severe fasting hypoglycemia
b) 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
Related
glucose-6-phosphatase (G6Pase, G-6-Pase, G6PC, G6PT)
General
glycogen storage disease (glycogenosis)
Properties
DEFICIENT-PROTEIN: glucose-6-phosphatase
COMPARTMENT: endoplasmic reticulum
MOTIF: transmembrane domain {30-46}
transmembrane domain {59-75}
N-glycosylation site {N96}
transmembrane domain {153-169}
transmembrane domain {211-227}
transmembrane domain {296-312}
transmembrane domain {320-336}
Prevents secretion from ER {354-357}
Database Correlations
OMIM correlations
References
Clinical Diagnosis & Management by Laboratory Methods,
J.B. Henry (ed), W.B. Saunders Co., Philadelphia,
PA. 1991, pg 185