Work

From photosensitivity to autoimmunity: the role of AI metabolomics in PCT–celiac disease overlap

Year: 2026

Type: article

Abstract: Porphyria cutanea tarda (PCT), caused by hepatic uroporphyrinogen decarboxylase deficiency, may rarely overlap with undiagnosed celiac disease (CD), complicating diagnosis due to shared hepatic and dermatologic features. Both conditions present with skin manifestations such as photosensitivity, blistering, or dermatitis herpetiformis-like lesions, often leading to misclassification. AI-driven metabolomics provides a novel strategy to identify metabolic biomarkers, predict CD with high accuracy through machine learning, and uncover hidden comorbidities in PCT patients. Despite challenges including limited datasets, bioinformatics demands, and regulatory barriers, integrating metabolomics with AI could enhance diagnostic precision and enable personalized management. Multidisciplinary collaboration is critical to translating these technologies into clinical practice for early detection and improved outcomes in PCT-CD overlap.

Source: Annals of Medicine and Surgery

DOI: 10.1097/ms9.0000000000004730

Authors: S. Tongpangkokla Ozukum, Kainat Wajahat, Muhammad Abdullah, Maliha Khalid, Aminath Waafira

Institutions: Liaquat University of Medical & Health Sciences, Jinnah Sindh Medical University, Maldives National University

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: gold

Estimated APC paid: $1,850