December 2019 — Biochemical Genetics

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.

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Photo of Ester Perales Clemente, Ph.D. Ester Perales Clemente, Ph.D.
Fellow, Clinical Biochemical Genetics
Mayo Clinic
Photo of Silvia Tortorelli, M.D., Ph.D. 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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