Heme Metabolism and Porphyria

Dear Colleagues,

Heme is the “pigment of life”. It is widely recognized as component of hemoglobin, which is necessary to bind oxygen in the bloodstream, but it also is an essential prosthetic group in a number of other biologically important hemoproteins. Heme production takes place in all cells of the body even though the major tissues for heme synthesis are the bone marrow by erythrocytes and the liver by hepatocytes. Its biosynthesis involves a tightly regulated eight-step enzymatic pathway that occurs partly in the mitochondria and partly in the cytosol. A defect in an enzyme of the pathway leads to accumulation of intermediates of heme synthesis causing a clinically significant outcome of a group of metabolic disorders called “porphyrias”. Current biochemical and genetic evidences do not yet fully explain the low penetrance and wide variability in clinical presentation of these rare diseases. This special issue will focus on the recent advances in heme homeostasis, mitochondrial transport and cellular trafficking as well as on the progress of clinical and translational research in pathophysiology, genetic, diagnosis and treatment for the acute hepatic and erythropoietic porphyrias. Studies presenting new biomarkers of disease severity, validation of pathogenetic variants, clinical trial results and relationship with environmental and nutritional factors will also be included.

Dr. Elena Di Pierro
Dr. Jasmin Barman-Aksözen
Dr. Emmanuel Richard
Guest Editors

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