Acute hepatic porphyrias: Recommendations for evaluation and long‐term management
Manisha Balwani, Bruce Wang, Karl E. Anderson, Joseph R. Bloomer, D. Montgomery Bissell, Herbert L. Bonkovsky, John D. Phillips, Robert J. Desnick, for the Porphyrias Consortium of the Rare Diseases Clinical Research Network – 12 June 2017 – The acute hepatic porphyrias are a group of four inherited disorders, each resulting from a deficiency in the activity of a specific enzyme in the heme biosynthetic pathway. These disorders present clinically with acute neurovisceral symptoms which may be sporadic or recurrent and, when severe, can be life‐threatening.