Enzyme or protein defect
Pyruvate carboxylase
Accumulates or becomes deficient
Lactate
Key features
Lactic acidosis, hypoglycaemia, neurological disease
Management
Supportive; aspartate/citrate supplementation
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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