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Verónica Cornejo

University of Chile, Chile

Title: Analysis of the Chilean cohort with phenylketonuria with neonatal diagnosis: relationship between genotype-phenotype (GVP) value and IQ

Abstract

Introduction: 30 years ago, the neonatal screening (NBS) for Phenylketonuria (PKU) was implemented in Chile, presenting an incidence of 1:18,916 live births.
Objective: To analyze the relationship between metabolic control with the concentration of phenylalanine (PheC), cognitive development (mental development index/intellectual quotient= MDI/IQ) and the molecular study of the PKU cohort in Chile. Methodology: Cross-sectional analysis of 127 subjects with PKU in the 2019/2020 period, calculating the annual average (±SD) of the PheC. MDI was measured at <4 years (Bayley scale) and IQ at >4 years (Wechsler scale). The molecular study was carried out by massive sequencing (Spain), classifying the phenotype according to allelic values and genotypic phenotype (GVP) values.
Results: The age of diagnosis was 17±8 days with a PheC of 1128±492µM. The annual PheC was 348±168 µM (expected value: 120-360 µM). Eighty-five percent of children <4 years of age had normal cognitive development (MDI score >80). In individuals >4 years old, 82% presented a normal IQ (score >80), 9% borderline (score 79-70) and 9% with mild to moderate disability. Regarding the molecular study, 26 variants were detected (higher frequency c.1162G>A), where 90% of the individuals had classic GVP and 10% mild. No association was observed between IQ score and GVP. When comparing the groups according to the MDI/IQ, a significant difference was observed in the PheC (p<0.05).
Conclusions: The NBS program and the maintenance of metabolic control are essential to prevent intellectual disability and promote adequate cognitive development. This study complies with the ethical principles for medical research involving human subjects in accordance with the Declaration of Helsinki.

Biography

Prof. Veronica Cornejo E: Professor at the University of Chile. Laboratory of Genetics and Metabolic Diseases, of the Institute of Nutrition and Food Technology(INTA), University of Chile, Nutritionist, Master in Nutrition from the University of Chile and specialist in metabolic diseases at the Children's Hospital of Los Angeles, California, USA. She is part of the advisory committee of the National Neonatal Research Program for Phenylketonuria and Congenital Hypothyroidism of the Chilean Ministry of Health. She is the director of the online course: Diagnosis and treatment in EIM and of the face-to-face specialization course in Chronic Non-Communicable Diseases of nutritional origin. She and the course Ketogenic diet in refractory epilepsy and GLUT1. She participates as associate editor of the Journal of Inborn Errors of Metabolism and Screening, reviewer in the Chilean Journal of Pediatrics and in the Chilean nutrition journal. She is the author of more than 100 national and international publications and more than 80 book chapters and educational material. She is editor of the books: Inborn errors of the child's metabolism (4th edition) and of the book Nutrition in the vital cycle. The lines of research developed from it are: treatment and follow-up of inborn errors of metabolism, ketogenic diet and neonatal screening program for EIM