MD, Leipzig University, 1987
MSc, Leipzig University, 1987
PhD, Biochemistry, Leipzig University, 1992
Habilitation, Ruprecht-Karls University Heidelberg, 2004
|Address||Peter Gilgan Center for Research and Learning
686 Bay Street
Toronto, ON M5G0A4
|Office Phone||647-813-7654 Ext 304831|
Metabolic Diseases and Treatment
Working as a biochemist and pediatrician in the field of Inborn Errors of Metabolism since 25 years, I developed a deep interest to understand the biochemical and molecular basis of disorders related to the Creatine metabolism, the so called Creatine Deficiency Syndromes. Also, while providing care for the very first patients, I realized the need to develop new treatment strategies for these ultra-rare conditions. Both, the more theoretical interest to understand the diseases and the practical aspect of designing treatments based on biochemical understanding, led me to establish a research group that is focused on
- Creatine Deficiency Syndromes,
- Regulation of Creatine Synthesis,
- Pathophysiology of Guanidino Compounds (Creatine is one of them), and
- Small Molecule Treatments.
Small molecule treatments can be applied to conditions like GAMT deficiency or Sanfilippo disease.
· GAMT is a Creatine Deficiency Disorder where the built-up of a toxic guanidino compound, guanidino acetate, causes pathology that can be addressed by inhibition of the enzyme upstream of the genetic block. This enzyme, Arginine:Glycine amidinotransferase (AGAT), is a very interesting target since it seems to play a crucial but yet not well understood role in the regulation of creatine synthesis, metabolic syndrome, lipid metabolism and stroke.
· Sanfilippo is a devastating Lysosomal Storage Disease where the pathological accumulation of heparan sulfate can be addressed via substrate reduction therapy. The target here is the enzyme N-deacetylase-sulfotransferase 1 (NDST1).
For both conditions, GAMT and Sanfilippo, we have identified the potential targets and set up drug-discovery pipelines including high-content drug screening, in-silico screening, cell system validation and confirmation in animal models and patient cells.
Awards & Distinctions
2015 — Student Choice Award. Arts & Science Co-op Programs - sciences category, University of Toronto Scarborough, Toronto, Ontario
2011 — Planters Tapestry Award for Cultural Competence. The New Immigrant Support Network, Hospital for Sick Children, Toronto, Ontario
2008 — The 2008 Interprofessional Practice Award in Paediatric Hospice Palliative Care. Hospital for Sick Children, Toronto, Ontario
View all publications on PubMed
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.
Schulze A, Hess T, Wevers R, Mayatepek E, Bachert P, Marescau B, Knopp MV, De Deyn PP, Bremer HJ, Rating D
J Pediatr 1997: 131: 626-631 Read
Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation.
Schulze A, Ebinger F, Rating D, Mayatepek E
Mol Genet Metab 2001: 74: 413-419 Read
Lack of creatine in muscle and brain in an adult with GAMT deficiency.
Schulze A, Bachert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E
Ann Neurol 2003: 53: 248-251 Read
Creatine deficiency syndromes.
Mol Cell Biochem 2003: 244: 143-150 Read
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF
Pediatrics 2003: 111: 1399-1406 Read
Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.
Schulze A, Hoffmann GF, Bachert P, Kirsch S, Salomons GS, Verhoeven NM, Mayatepek E
Neurology 2006: 67: 719-721 Read
Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.
Schulze A, Bauman M, Tsai AC, Reynolds A, Roberts W, Anagnostou E, Cameron J, Nozzolillo AA, Chen S, Kyriakopoulou L, Scherer SW, Loh A
Pediatrics 2016: 137: 1-9 Read
Systemic availability of guanidinoacetate affects GABA(A) receptor function and seizure threshold in GAMT deficient mice.
Schulze A, Tran C, Levandovskiy V, Patel V, Cortez MA
Amino Acids 2016: 48: 2041-2047 Read
NDST1 Preferred Promoter Confirmation and Identification of Corresponding Transcriptional Inhibitors as Substrate Reduction Agents for Multiple Mucopolysaccharidosis Disorders.
Tkachyova I, Fan X, LamHonWah AM, Fedyshyn B, Tein I, Mahuran DJ, Schulze A
PLoS One 2016: 11: e0162145 Read
An MRspec database query and visualization engine with applications as a clinical diagnostic and research tool. Mol Genet Metab 2016: 119: 300-306
Miscevic F, Foong J, Schmitt B, Blaser S, Brudno M, Schulze A
Mol Genet Metab 2016: 119: 300-306 Read