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