Porphyrias: Uncommon disorders masquerading as common childhood diseases

Porphyrias are a rare group of inborn errors of metabolism due to defects in the heme biosynthetic pathway. The biochemical hallmark is the overproduction of porphyrin precursors and porphyrin species. Afflicted patients present with a myriad of symptoms causing a diagnostic odyssey. Symptoms often overlap with those of common diseases and may be overlooked unless there is heightened clinical suspicion. We are reporting clinical features and diagnostic challenges in four pediatric patients having variegate porphyria, congenital erythropoietic porphyria, acute intermittent porphyria, and erythropoietic protoporphyria (EPP), who presented with diverse multisystem manifestations. This case series illustrates a logical analysis of symptoms and judicious selection of investigations and the role of genotyping in successfully diagnosing porphyrias.

Automated summary

Porphyrias are rare inborn errors of metabolism caused by defects in the heme biosynthetic pathway, leading to overproduction of porphyrin precursors and porphyrin species. Diagnosing porphyrias is challenging due to overlapping symptoms with common diseases. This case series highlights the importance of logical analysis of symptoms, judicious selection of investigations, and genotyping in successfully diagnosing porphyrias.