A novel mutation of porphyria variegate with predominant painful sensorimotor peripheral neuropathy disclosed by post gastric by-pass complications: A case report

Abstract

Porphyrias are a group of rare genetic diseases due to various mostly autosomal dominant mutations causing enzymatic deficiency in heme biosynthesis. As a result, neuro-toxic porphyrin precursors and light-sensitizing porphyrins accumulate, while their targets determine the disease symptoms. Porphyria variegate (VP), one of the acute hepatic porphyrias, is caused by a PPOX mutation. During acute crisis triggered by drugs, stressors or fasting, an increase of porphobilinogen (PBG), aminolaevulinic acid (ALA) and porphyrins in urine and stool occur, damaging the autonomous, peripheral and central nervous system.