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MS
FBP1 AR unreviewed

Fructose-1,6-bisphosphatase deficiency

Enzyme or protein defect

Fructose-1,6-bisphosphatase

Accumulates or becomes deficient

Lactate, ketones

Key features

Fasting hypoglycaemia with lactic acidosis and ketosis, hyperventilation

Management

Avoid fasting; glucose during illness

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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