ABSTRACT
Porphyrias are groups of heterogeneous metabolic disorders that result from derangement of the heme biosynthesis. There are 8 distinct subtypes each corresponds to a distinct enzymatic step in this pathway. There are generally classified as erythoid, hepatic and hepatic cutaneous disorders. Several mutations have been identified that result in these metabolic abnormalities. This group of disorders shares the fact that there is excessive heme biosynthesis intermediate, protoporphyrin that causes hepatic, cutaneous and neurological damage. Despite recent advancement in the diagnosis and mutation identification, no effective curative treatment is available for most of these disorders. Erythoid porphyria is likely an exception since hematopoietic stem cell transplantation (HSCT) has been used as a potential curative treatment. This report will highlight the pathogenesis of porphyrias and discusses the role of curative HSCT in erythroid porphyrias.
