Enzyme or protein defect
Porphobilinogen deaminase (HMBS)
Accumulates or becomes deficient
ALA, porphobilinogen
Key features
Abdominal pain, neuropathy, psychiatric signs, port-wine urine; NO photosensitivity; triggered by CYP inducers, fasting, alcohol
Management
IV haem, glucose loading, avoid triggers, givosiran
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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