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Andreas Schulze

Title: Medical Director, Newborn Screening Program, Department of Paediatrics
Designations: MD, PhD, FRCPC
Alternate Contact Name: Denese Henry
Alternate Phone: 416-813-7654 ext. 301480
Alternate Email:

Research Positions

Senior Associate Scientist
Genetics & Genome Biology


Dr. Andreas Schulze is a well-established Clinician Scientist who has spent the past 25+ years of medical research and clinical care in the field of Inborn Errors of Metabolism. Dr. Schulze leads a research group that applies biochemistry, genomics, cell biology, and model systems to improve the understanding of and develop treatments for rare inborn errors of metabolism. The main focus is on Creatine Deficiency Syndromes and Guanidinocompound-/Arginine metabolism and Sanfilippo Syndrome.

Dr. Schulze’s vision is the provision of the best, highly-specialized care and preventive medicine to as many affected patients and their families, and to avoid harm to those persons not in need for treatment. His creative professional activity includes but is not limited to developing standards and pathways of care, educating trainees, health care professionals and families, executing collaborative research, and providing national and international leadership in Metabolics and Newborn Screening.


Dr. Schulze is a Clinician Scientist who has spent the past 20+ years conducting medical research at the forefront of Inborn Errors of Metabolism. He applied new diagnostic techniques like stable isotope tracer metabolic flux studies, LC-MSMS for Expanded Newborn Screening, HPLC guanidino compound analysis, and in vivo MR spectroscopy. 

He was the first to report and describe the full biochemical spectrum in GAMT-D and has been a leader in the field of innovative therapies since. 

Studying mouse models of AGAT-D and GAMT-D to inform endpoints for small molecule therapies and to delineate the pathophysiology of disease, his research group has established a breadth of biological methods for mouse phenotyping that includes micro-quantification of creatine metabolites and guanidino compounds, in vivo mouse brain [1H] - and [31P] MR spectroscopy, mouse electrocorticography, and quantitative high-resolution mouse brain imaging in close collaboration with other researchers. For two conditions, GAMT-D and Sanfilippo disease, Dr. Schulze’s group has identified druggable treatment targets and set up a complete suite of tests for drug discovery, validation and confirmation. 

U of T Positions

Department of Paediatrics 
Department of Biochemistry 

Chair Positions

Chair, Provincial Newborn Screening Working Group: Metabolic Disorders 
Chair, Faculty of Medicine Appointment Advisory Committee, University of Toronto 
President, Garrod Association, Canada


  • 19811987: Medical Doctor, Universitat Leipzig, Leipzig, Germany.
  • 19841987: Dipl.-Med. (D), Universitat Leipzig, Leipzig, Germany.
  • 19871992: Dr. med. (PhD), Universitat Leipzig, Leipzig, Germany.
  • 20012004: Dr. med. habil. (D), Ruprecht Karls Universitat, Heidelberg, Germany. 


  • 19871992: Academic Associate, Institute of Biochemistry, Medical Faculty University of Leipzig, Leipzig, Germany.
  • 19921999: Scientific Associate Physician, University Children’s Hospital, Paediatrics & Metabolic Genetics, Ruprecht-Karls-University, Heidelberg, Germany.
  • 19922004: Academic Associate, Department of Paediatrics, Ruprecht-Karls-University, Heidelberg, Germany.
  • 19942000: Head, Newborn Screening Laboratory and Provincial Newborn Screening Program, University Children’s Hospital Heidelberg, Heidelberg, Germany.
  • 19992002: Faculty Staff Paediatrician, Department of Paediatrics I (General Paediatrics, Metabolism, Gastroenterology, and Nephrology), Faculty of Medicine, Ruprecht-Karls-University of Heidelberg, Heidelberg, Germany.
  • 20002000: Head, Clinical Chemistry Laboratory, University Children’s Hospital Heidelberg (until closure because of laboratory centralization), Heidelberg, Germany.
  • 20022005: Faculty Senior Staff Paediatrician, Department of Paediatrics I (General Paediatrics, Metabolism, Gastroenterology, and Nephrology), Faculty of Medicine, Ruprecht-Karls-University of Heidelberg, Heidelberg, Germany.
  • 20042007: University Lecturer, Ruprecht-Karls-University, Heidelberg, Germany.
  • 20062006: Assistant Professor, Johann Wolfgang Goethe-University, Frankfurt, Germany.
  • 2006-2006: Faculty Senior Staff Paediatrician, Paediatrics, Department of Paediatrics I, Johann Wolfgang Goethe-University, Frankfurt, Germany.
  • 20072017: Associate Scientist, Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario.
  • 20072017: Associate Professor, Faculty of Medicine, University of Toronto, Toronto, Ontario.
  • 20162017: Associate Professor (Status Only), Department of Biochemistry, University of Toronto, Toronto, Ontario. 


  • 2019Present: President - Garrod Association.
  • 20172019: President Elect - Garrod Association (Executive).
  • 20172018: Chair - Newborn Screening of Ontario Advisory Council Homocysteine Review Task Force.
  • 20152017: Chair - Newborn Screening of Ontario.
  • 2015: Student Choice Award - Arts & Science Co-op Programs (sciences category), University of Toronto Scarborough.
  • 2015Present: Member - Newborn Screening Ontario Advisory Council.
  • 2015Present: Chair - Metabolic Disease Provincial Working Group. 
  • 2014–Present: Editorial Board Member - Journal of Gene Therapy for Genetic Disorders (Herald Scholarly Open Access).
  • 2012Present: Member - Inherited Metabolic Diseases Program Subcommittee, Ontario Public Drug Programs.
  • 2011: Planters Tapestry Award for Cultural Competence - The New Immigrant Support Network, The Hospital for Sick Children.
  • 2008: The 2008 Interprofessional Practice Award in Paediatric Hospice Palliative Care – The Hospital for Sick Children. 


  1. Cameron JM, Levandovskiy V, Roberts W, Anagnostou E, Scherer S, Loh A, Schulze A: Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder. International Journal of Molecular Sciences 2017: 18: pii: E1665. 
  2. Schulze A, Bauman M, Tsai ACH, Reynolds A, Roberts W, Anagnostou E, Cameron JM, Nozzolillo AA, Chen S, Kyriakopoulou L, Scherer SW, Loh A: Prevalence of Creatine Deficiency Syndromes in Children with Non-syndromic Autism. Pediatrics 2016: 137(1):1-9. 
  3. Miscevic F, Foong J, Schmitt B, Blaser S, Brudno M, Schulze A: An MRSpec database query and visualization engine with applications as a clinical diagnostic and research tool. Molecular Genetics and Metabolism 2016: 119: 300-306. 
  4. Tkachyova I, Fan X, LamHonWah AM, Fedyshyn D, Tein I, Mahuran DJ, Schulze A: NDST1 preferred promoter confirmation and identification of corresponding transcriptional inhibitors as substrate reduction agents for multiple mucopolysaccharidosis disorders. PLoS One 2016:11: e0162145. 
  5. Schulze A, Tran C, Levandovskiy V, Patel V, Cortez MA: Systemic availability of guanidinoacetate affects GABA(A) receptor function and seizure threshold in GAMT deficient. Amino Acids 2016:48:2041-2047. 


New Therapy for Six Mucopolysaccharidoses. Sanfilippo Children's Foundation, Australia and Cure Sanfilippo, US. Principal Investigator. 


Molecular-Functional Imaging of Hypoxia in Childhood Sarcomas: Feasibility Steps towards Personalized Medicine. Society of Pediatric Radiology. Principal Investigator: Doria A. Co-Investigator.

Diagnostic Uncertainty Generated by Newborn Screening for Inborn Errors of Metabolism: Parent, provider, and programmatic perspectives. Center for Genetic Medicine Catalyst Grant. Co-Principal Investigator. 

Pre-clinical gene editing for Arginase-1 deficiency.  2015-2016 Urea Cycle Disorders Consortium Research Fellowship in Urea Cycle Disorders. Urea Cycle Disorder Consortium. Co-Principal Investigator. 


Longitudinal Study of Urea Cycle Disorders. Children's Research Institute. Site-Principal Investigator. 


Rare Diseases Clinical Research Consortia (RDCRC) for the RDCR Network - Urea Cycle Disorder Consortium. National Institute of Child Health and Human Development and National Centre for Advancing Translational Sciences. Site-Principal Investigator. 


HPN-009. An Open Label Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate (GPG; RAVICTI) in Pediatric Subjects under Two Years of Age with Urea Cycle Disorders (USCDs).  Hyperion Therapeutics. Site-Principal Investigator. 

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