Carolina Arias Pefaur

Carolina Arias Pefaur is an Assistant Professor at the Institute of Nutrition and Food Technology, part of the Faculty of Medicine at the Pontifical Catholic University of Chile. She has held coordinating and participating roles in undergraduate and postgraduate courses, including the Clinical Module of Genetics and Metabolic Diseases and Diagnosis and Treatment of Metabolic Diseases, since 2015.

• Physician-Surgeon, Universidad Mayor (date: 12/21/1200, likely a placeholder or error).

Her research focuses on metabolic disorders such as phenylketonuria (PKU) and tyrosinemia type 1, emphasizing dietary compliance, neurocognitive outcomes, and machine learning applications for early detection of complications like hepatocellular carcinoma. She explores the interplay between nutrition, genetics, and long-term health in patients with inborn errors of metabolism.

Recent publications highlight her work on machine learning models to predict insulin resistance in PKU patients, vitamin D levels and bone health, and NTBC treatment monitoring in tyrosinemia. Her studies compare metabolic and neurocognitive outcomes across disorders and analyze dietary fat intake in glucose transporter type 1 deficiency syndrome.

She led the FONDECYT Regular project Phenylketonuria as a window to examine the role of catecholamines in attention deficit hyperactivity disorder (2018–2022), which investigates PKU’s link to neurodevelopmental conditions. Collaborations span institutions in Chile and globally, with publications in journals like International Journal of Molecular Sciences and Journal of Inherited Metabolic Disease.