Patricia Janeiro

Staff Physician, Metabolic Genetics, Division of Clinical and Metabolic Genetics

Patrícia Janeiro is an Assistant Professor of Paediatrics and Molecular Genetics at the University of Toronto and The Hospital for Sick Children. She earned her medical degree from the University of Lisbon, Portugal, and completed her Paediatrics residency at Hospital Fernando Fonseca in Amadora. She subsequently worked as a Paediatrician in the Metabolic Diseases Unit at the Lisbon Reference Centre for Inborn Errors of Metabolism (ULSSM, Lisbon University), where she also obtained specialization in Hereditary Metabolic Diseases at the Lisbon North University Hospital Center (CHLN).

Patrícia is pursuing a PhD in the Bologna Doctoral Program at the University of Lisbon – Lisbon Academic Medical Center, focusing on fatty acid oxidation disorders. Since 2020, she has served as Vice-President of the Board of the Portuguese Society of Metabolic Diseases (SPDM) and has been a member of the SPDM working group for fatty acid β-oxidation defects since 2021. She was also part of the European Reference Network MetabERN working group on fatty acid oxidation disorders from 2017 to 2026.

She joined the Division of Clinical and Metabolic Genetics at The Hospital for Sick Children and the University of Toronto in 2026.

1. Janeiro P, Jotta R, Ramos R, Florindo C, Ventura FV, Vilarinho L, Tavares de Almeida I, Gaspar A. Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era. Eur. J Pediatr. 2019 Mar; 178(3): 387-394.
2. Câmara B, Florindo C, de Lima CB, Correia N, Fernandes I, Batista M, Gaspar A, Janeiro P. Rethinking phenylalanine levels in phenylketonuria for optimal neurocognitive development beyond childhood. Front Pediatr. 2025 Jun; 19:13: 1488809. eCollection 2025.
3. Merkevicius K, Smirnov D, Schlieben LD, Ganetzky R, Feichtinger RG, Jiang H, Fang F, Ebihara T, Janeiro P, Wortmann SB et al. The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency. Brain. 2025 Nov 14: awaf430. doi: 10.1093/brain/awaf430. Online ahead of print.
4. Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, Sequeira S, Ferreira AC, Teles EL, Rodrigues E, Fortuna AM, Mendonça C, Fernandes HC, Medeira A, Gaspar A, Janeiro P, Oliveira A, Laranjeira F, Ribeiro I, Souche E, Race V, Keldermans L, Matthijs G, Jaeken J. Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience. J Pediatr. 2021 Apr; 231: 148-156.
5. D Marques-da-Silva, V Dos Reis Ferreira, M Monticelli, P Janeiro, P A Videira, P Witters, J Jaeken, D Cassiman. Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. J Inherit Metab Dis. 2017 Mar;40(2):195-207.