null John Mitchell, MD

Scientist, RI-MUHC, Glen site

Child Health and Human Development Program

Centre for Translational Biology

Associate Professor, Department of Pediatrics, Faculty of Medicine and Health Sciences, McGill University

Department of Pediatrics, Division of Endocrinology and Metabolism, MUHC



PKU • Morquio syndrome • orphan disease • orphan therapy

Research Focus

As a pediatric endocrinologist and biochemical geneticist, my research interests focus on orphan therapeutics and defining both relevant clinical and biochemical outcome measures. I have been extensively involved in development of national and international clinical practice guidelines for phenylketonuria and for Morquio A, Maroteaux-Lamy and Hunter syndromes. My laboratory focuses on inflammatory biomarkers to further define mechanisms of disease in these rare disorders. Our current research centres on development of a sphingolipidomics translational research platform. The objective of this project is to evaluate the levels of ceramide in patients with rare lysosomal storage diseases (e.g., mucopolysaccharidoses, peroxisomal diseases, ceramidase deficiency disorders), using dried blood spots.

Selected Publications

Click on Pubmed to see my current publications list

  • Goudie C, Alayoubi A*, Tibout P, Duval M, Maranda B, Mitchell D, Mitchell JJ, Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case reports and literature review. Journal of Inherited Metabolic Disease Reports, accepted for publication.

  • Steunenberg TAH F. Peeks,F I.J. Hoogeveen IJ, Mitchell JJ, H. Mundy H, de Boer F, Lubout CMA, de Souza CF, D.A. Weinstein DA, Derks TGJ. Safety Issues Associated with Dietary Management in Patients with Hepatic Glycogen Storage Disease, Molecular Genetics and Metabolism, 125:79-85, 2018. doi: 10.1016/j.ymgme.2018.07.004.

  • Clarke L, Ellaway C, Foster H, Gigliani R, Goizet C, Hawley S, Jurecki E, Zhan Z, Lampe C, Martin K, McMullen S, Mitchell J, Mubarack F, Muenzer J, Sivri S, Stewart FJ, Tylki-Szymanska A, White K, Wijburg F, Understanding the early presentation of mucopolysaccharidosis: results of a systematic literature review and physician survey, Journal of Inborn Errors of Metabolism and Screening, 7:1-12, 2018.

  • Hendriksz CJ, Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Norberto Guelbert N, Stewart F, Hughes DA, Matousek R, Hawley SM, Decker C, Harmatz PR. Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study, Molecular Genetics and Metabolism, 2018 Feb;123(2):127-134,

  • Shapiro EG, Escolar ML, Delaney K, Mitchell JJ. Assessment of neurocognitive function in mucopolysacchardoses. Molecular Genetics and metabolism, Dec;122S:8-16. doi: 10.1016/j.ymgme.2017.09.007.