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glycogen storage disease type 0 (muscle, liver types)
Genetics:
- associated with defects in GYS1 (muscle), GYS2 (liver)
Clinical manifestations:
- fasting hypoglycemia presenting in infancy or early childhood
- although feeding relieves symptoms, it often results in postprandial hyperglycemia & hyperlactatemia
Laboratory:
- fasting hypoglycemia
- high serum ketones
- low serum alanine & serum lactate
General
glycogen storage disease (glycogenosis)
References
UniProt :accession P13807