Enzyme or protein defect
ALA dehydratase and ferrochelatase
Accumulates or becomes deficient
ALA, protoporphyrin (zinc protoporphyrin)
Key features
Microcytic anaemia with basophilic stippling, abdominal colic, wrist/foot drop, encephalopathy, gingival lead lines
Management
Chelation (succimer, EDTA, dimercaprol)
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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