December 2019 — Biochemical Genetics

By MCL Education • December 10, 2019

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64 year old female with an outside diagnosis of porphyria cutanea tarda (PCT), with a new onset of abdominal pain. She had a complex constellation of neurological symptomatology with unclear etiology. She is currently on Clonazepam, but over the past 2 months her spells have worsened. Analysis of porphyrins in urine (during an acute episode) and in feces, revealed several porphyrins elevated in an unusual pattern (Figure 1 and Figure 2 respectively). The erythrocyte porphobilinogen deaminase activity was normal.

	Ester Perales Clemente, Ph.D. Fellow, Clinical Biochemical Genetics Mayo Clinic
	Silvia Tortorelli, M.D., Ph.D. Consultant, Laboratory Genetics and Genomics Mayo Clinic Assistant Professor of Laboratory Medicine and Pathology Mayo Clinic College of Medicine and Science

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