Evidence for neurological dysfunction in end‐stage protoporphyric liver disease
Jeffrey M. Rank, Robert Carithers, Joseph Bloomer – 1 December 1993 – Protoporphyria is a genetic disorder characterized by a defect in the enzyme ferrochelatase, which catalyzes the chelation of iron to protoporphyrin. This causes excessive accumulation and excretion of protoporphyrin. The predominant clinical feature is photosensitivity. Progressive and fatal liver disease occurs in a small percentage of cases.