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About Sickkids
About SickKids

Andreas Schulze, MD, PhD, FRCPC

The Hospital for Sick Children
Staff Metabolic Geneticist, Clinician Investigator, Section Head, Genetic Metabolic Diseases Program
Clinical and Metabolic Genetics

Director, Newborn Screening Program
Clinical and Metabolic Genetics

Research Institute
Senior Associate Scientist
Genetics & Genome Biology

University of Toronto
Dept. of Paediatrics
Associate Professor

Phone: 416-813-7654 EXT. 201480
Fax: 416-813-5345
Email: andreas.schulze@sickkids.ca

Research Interests

Genetic Diseases of Creatine Metabolism. Improving strategies for early diagnosis and treatment in genetic defects of guanidinoacetate methyltransferase (GAMT), arginine:glycine amidinotransferase (AGAT) and creatine transporter (CrT1). My research suggests that early and efficient treatment may prevent severe neurological impairment in patients. My research goal is to develop comprehensive biochemical and molecular genetic testing and inclusion in newborn screening.

Through my research I plan to optimize existing, and develop new treatments to improve brain creatine uptake and to reduce neurotoxic guanidinoacetate. I will also continue to study AGAT and GAMT knock-out mice and development of a model for the CrT defect.

Magnetic Resonance Spectroscopy. Use for in vivo metabolic profiling in brain. We are developing the protocol for standardized quantitative assessment in children at SickKids and we are setting up the method for MRS in mice brain.

ESI-Tandem Mass Spectrometry. We are also developing new technologies and applications toward comprehensive metabolom description.

External Funding

  • 2009 - 2012 PI ATN AIR-P-09-01. Prevalence of Creatine Deficiency Syndromes and Genetic Variability in Creatine Metabolism in Children with ASD: A Pilot Study. HRSA grant. Subcontractor Massachusetts General Hospital
  • 2010-2012 Site-PI HPN 100 – 007.  A Phase 3, Open-Label Study of the Safety of HPN-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD).  Hyperion Therapeutics
  • 2010-2011 PI Brain and whole body anatomy study in AGAT and GAMT mice with high-resolution magnetic resonance imaging. Mead Johnson/Weston Endowment 2010
  • 2010-2011 PI Insulin secretion and sensitivity in patients with Glycogen storage disease I and III. Halee Ochshorn Fund
  • 2010–2011 PI Defining metabolite pattern in rare neurometabolic disorders by 1H-magnetic resonance spectroscopy (1H-MRS) of the brain in children. The Rare Disease Foundation
  • 2010–present Site-PI HPN 100-011. Long term use of HPN-100 in Urea Cycle Disorders.
    Hyperion Therapeutics
  • 2011–2012 Co-Inv (PI Loh) ATN AIR-P-10-02. The study of toddlers with autism and regression (STAR). HRSA subcontractor Massachusetts General Hospital
  • 2011–2013 Co-Inv (PI Loh/Roberts/Anagnostou) Autism Treatment Network:  Cooperative Multi-Center Program for Research and Treatment of Autism.  Autism Speaks


C. P. Barnett; W. C. Lam & Schulze A. Retinal detachment causing unilateral blindness in a 12-year-old girl with gyrate atrophy. J Inherit Metab Dis, 32, 5, 670-671, (2009)

Schulze, A, & R. Battini Pre-symptomatic treatment of creatine biosynthesis defects..Subcell.Biochem., 46, 167-181, (2007)

M. Wyss; O. Braissant; I. Pischel; G. S. Salomons; A. Schulze; S. Stockler & T. Wallimann Creatine and creatine kinase in health and disease--a bright future ahead? Subcell.Biochem., 46, 309-334, (2007)

Werner R, Treiss I, Kohlmueller D, Mehlem P, Teich M, Longin E, Gerstner R, Koenig SA, Schulze A. Effects of valproate on acylcarnitines in children with epilepsy using ESI-MS/MS. Epilepsia, 48, 1, 72-76, (2007)

M. Lindner; G. Abdoh; J. Fang-Hoffmann; N. Shabeck; M. Al-Sayrafi; M. Al-Janahi; S. Ho; M. O. Abdelrahman; T. Ben-Omran; A. Bener; Schulze A; H. Al-Rifai; G. Al-Thani & G. F. Hoffmann Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg. J Inherit Metab Dis, 30, 4, 522-529, (2007)

Schulze A, Hoffmann GF, Bachert P, Kirsch S, Salomons GS, Verhoeven NM, Mayatepek E. Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency. Neurology, 67, 4, 719-721, (2006)

Schulze A, Lindner M, Kohlmueller D, Olgemoeller K, Mayatepek E, Hoffmann GF. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry – results, outcome, and implications. Pediatrics, 111, 6, 1399-1406, (2003)

Schulze A, Bachert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E. Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol, 53, 2, 248-251, (2003)

Schulze A, Ebinger F, Rating D, Mayatepek E. Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. Mol Genet Metab, 74, 4, 413-419, (2001)

Schulze A, Frommhold D, Hoffmann GF, Mayatepek E. Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I. Clin Chem, 47, 8, 1424-1429, (2001)

Schulze A; T. Hess; R. Wevers; E. Mayatepek; P. Bachert; B. Marescau; M. V. Knopp; P. P. De Deyn; H. J. Bremer & D. Rating Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.J Pediatr, 131, 4, 626-631, (1997)