A case of congenital erythropoietic porphyria without hemolysis

2013/01/01 by ArunK De, Kallol Das, Archan Sil +1 · 1 citation
Biochemistry, Genetics and Molecular Biology · Chemistry · Medicine · #Biochemistry #Chemistry #Endocrinology #Enzyme #Erythropoietic protoporphyria #Heme #Hemolysis #Internal medicine #Medicine #Metabolism and Genetic Disorders #Neonatal Health and Biochemistry #Photosensitivity #Porphyria #Porphyrin #Porphyrin Metabolism and Disorders #Protoporphyrin

paper · doi:10.4103/0019-5154.117336

openalex publication_date 2013/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/06/26

Abstract

Porphyrias are group of disorders caused by deficiency of the enzymes in heme synthetic pathway. Congenital erythropoietic porphyria (CEP) is an extremely rare disease with mutation in the gene that codes for uroporphyrinogen III synthase leading to accumulation of porphyrin in different tissues and marked cutaneous photosensitivity. Here, we describe a case of CEP with infancy onset blistering, photosensitivity, red colored urine and teeth along with scarring but without any feature of hemolysis.

Cited by

• Gunther disease [wikipedia]

Related

• Anémie hémolytique et photosensibilitéchez un nourrisson
• A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases
• The porphyrias: advances in diagnosis and treatment
• Hans Gunther and his disease
• Intracellular Rescue of the Uroporphyrinogen III Synthase Activity in Enzymes Carrying the Hotspot Mutation C73R