CASE SERIES
Ahead of print publication

Porphyrias: Uncommon disorders masquerading as common childhood diseases

Correspondence Address:
M Muranjan,
Genetic Clinic, Department of Pediatrics, Seth G.S. Medical College and K.E.M. Hospital, Parel, Mumbai, Maharashtra
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpgm.jpgm_698_22

PMID: 37082991

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.

Keywords: Chronic liver disease, hypertension, hyponatremia, inborn errors of metabolism, photosensitivity, seizures