ROLE OF SIMPLE BIOCHEMICAL TESTS IN DETECTING A VERY RARE CASE OF PORPHYRIA - A REPORT

Congenital erythropoietic porphyria is a very rare autosomal recessive disorder due to mutation in the gene that codes for uroporphyrinogen-III cosynthase, leading to accumulation of porphyrin in many tissues, with marked skin photosensitivity. 21 year old male exhibited severe photosensitivity, mutilation,disfigurement ,hypertrichosis. Laboratory investigations showed detectable urine uroporphyrins and coproporphyrins and increased erythrocyte porphyrins.