Porphyrins and Porphyrias

Elizabeth L. Frank, PhD, DABCC, FACB

Porphyrins and Porphyrias

April 8, 2010

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Porphyrins are intermediates in the biosynthetic pathway for the formation of heme, the iron-containing prosthetic group of hemoglobin. Porphyrias are a group of rare diseases that result from decreased activities of specific enzymes in the pathway. Deficient activity of an enzyme produces a disorder characterized by excessive accumulation and excretion of intermediate compounds that produce particular symptoms and generate clinical suspicion for the disease.

In this presentation, Dr. Frank will discuss heme biosynthesis as a means of understanding the properties of porphyrins that contribute to their toxicity and produce the symptoms of disease, and allow for their detection in body fluids by the laboratory. She will describe the porphyrias and outline initial laboratory testing for the evaluation of these disorders. An algorithm for the diagnosis of porphyrias based on the separation of disease symptoms into acute (neurological) and non-acute (cutaneous) categories will be presented.



Elizabeth L. Frank, PhD, DABCC, FACB, is an associate professor in the Department of Pathology at the University of Utah Health Sciences Center in Salt Lake City. She is the medical director of the Analytic Biochemistry Laboratory and the Calculi Section at ARUP Laboratories, Inc., and a co-medical director of the Mass Spectrometry Laboratory. Dr. Frank is the laboratory director of the University Health Care Central Laboratory.

Dr. Frank earned a BA in Biology from The Colorado College and worked as an ASCP-registered medical technologist at Penrose Hospital in Colorado Springs before she entered graduate school at the University of Colorado at Boulder, where she obtained a doctorate in organic chemistry. She completed a postdoctoral fellowship in clinical chemistry, and is certified as a diplomate of the American Board of Clinical Chemistry.

Dr. Frank first joined AACC as a new medical technologist in 1985 and rejoined the organization in 1995 when she began teaching clinical chemistry to medical technology students. She has served as the Chair of the Rocky Mountain Section, on the Annual Meeting Abstract Review Subcommittee, and as a judge for the Student Research Awards at the Annual Meeting. She is a current member of the AACC Board of Directors.

Outside of AACC, Dr. Frank is active in the National Academy of Clinical Biochemistry (NACB), serving as a member and Chair of the Awards Committee, and as a member of the Distinguished Abstracts Review Committee. She is the past Secretary-Treasurer of the Academy of Clinical Laboratory Physicians and Scientists (ACLPS). Dr. Frank continues to support young clinical chemists and laboratorians through her work as a Board Member of the American Board of Clinical Chemistry (ABCC) and as Vice President and Chair of Program Evaluations for the Commission on Accreditation in Clinical Chemistry (ComACC).

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To read more about laboratory diagnosis of porphyrias, check out THIS ARTICLE in the April issue of Clinical Laboratory News.