Work

Atypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria?

Year: 2025

Type: article

Abstract: We report a patient homozygous for the UROD c.185C>T (p.P62L) variant who presents with clinical features resembling familial porphyria cutanea tarda (PCT). This case highlights the limitations of rigid UROD-related porphyria classifications and supports the existence of a phenotypic continuum modulated by genetic, epigenetic, and environmental factors.

Source: Clinical Genetics

DOI: 10.1111/cge.70007

Authors: Pedro Gabriel Dotto, Mônica Ribeiro de Azevedo Vasconccellos, José Francisco da Silva Franco, Caio Perez Gomes, João Bosco Pesquero

Institution: Universidade Federal de São Paulo

Language: English

Topic: Porphyrin Metabolism and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,980