Porphyria: investigations
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Porphyria: investigations. Cerebrospinal fluid (CSF) analysis, Nerve conduction studies (NCS), Urinary porphyrins. Fully referenced neurology checklist.
Investigations of porphyria neuropathy
- Cerebrospinal fluid (CSF) analysis
- Nerve conduction studies (NCS)
- Urinary porphyrins
Investigations of acute porphyria
Locked: subscribe to see this section.
References
- Gerischer LM, Scheibe F, Nümann A, Köhnlein M, Stölzel U, Meisel A. Acute porphyrias - a neurological perspective. Brain Behav 2021; 11:e2389.
- Thadani H, Deacon A, Peters T. Diagnosis and management of porphyria. BMJ 2000; 320:1647-1651.
- Kuter DJ, Bonkovsky HL, Monroy S, et al. Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial. J Hepatol 2023 (Online ahead of print).
- Patel P, Midha S, Shukla S, Dhamija D, Bello AO, Khan S. Evaluating the efficacy of a small interfering ribonucleic acid molecule, givosiran, in treating acute intermittent porphyria: a systematic review. Cureus 2023; 15:e40585.
