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MS
UROD AD / acquired unreviewed

Porphyria cutanea tarda

Heme synthesis

Enzyme or protein defect

Uroporphyrinogen decarboxylase

Accumulates or becomes deficient

Uroporphyrin

Key features

Commonest porphyria; blistering photosensitivity, hypertrichosis, tea-coloured urine; linked to HCV, alcohol, iron, oestrogen

Management

Phlebotomy, low-dose hydroxychloroquine, trigger avoidance

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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