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
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