Cytochrome b5 reductase deficiency and hereditary methemoglobinemia

Published on February 27, 2018   26 min

Other Talks in the Series: Protein Epidemiology

0:00
My name is Scott Reading. I'm an Adjunct Assistant Professor in the Department of Pathology in Division of Hematology at the University of Utah and an investigator at ARUP Laboratories Institute for Clinical and Experimental Pathology in Salt Lake City Utah. The topic of this presentation is Cytochrome b5 Reductase Deficiency as it relates to Hereditary Methemoglobinemia.
0:25
I will be following this outline for the presentation. I'll briefly review how Methemoglobin is formed and discuss how it interferes with the proper transport of oxygen in the body. I will then introduce different causes of Methemoglobinemia and discuss in detail the role of Cytochrome b5 reductase in this disorder. This discussion will illustrate two clinical phenotypes and outline what is known about the various mutations and how they can change the function of this important enzyme. Next, I will discuss the differential diagnosis of Methemoglobinemia caused by Cytochrome b5 reductase deficiency and contrast this with other types of Methemoglobinemia caused by genetic or acquired conditions. In closing, I will discuss suggested therapies for Methemoglobinemia.
Hide

Cytochrome b5 reductase deficiency and hereditary methemoglobinemia

Embed in course/own notes