Enzyme or protein defect
Glucose-6-phosphatase
Accumulates or becomes deficient
Glycogen, G6P; low blood glucose
Key features
Severe fasting hypoglycaemia, lactic acidosis, hyperuricaemia, hyperlipidaemia, doll-like facies, hepatomegaly
Management
Frequent glucose/cornstarch feeds; avoid fructose and galactose
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · fetched just now · sorted by publication date
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1
Glycogen metabolism in humans.
Adeva-Andany MM, González-Lucán M, Donapetry-García C, Fernández-Fernández C, Ameneiros-Rodríguez E. · 2016-02-27
cited 339× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.