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Biochemical Diseases

We are mainly interested in the effects of Biochemical Diseases on the brain and on prevention of brain injury by Biochemical Diseases. One of our major interests in this respect it in the metabolism of creatinine. Creatinine is an amino acid made in the body by the liver and kidneys, and categorized as a nutritional supplement. A few other creatinine diseases have been discovered since.

Another interest in this respect is prevention of brain injury by newborn screening. Newborn screening programs, such as those at BC Children’s, can identify many of the more common biochemical diseases before clinical manifestations appear, when irreversible damage may have already been done.

As to basic research, we are currently working to create an animal model to investigate the effects of ketone bodies and related substances in protecting the brain. Results from this research may not only bring new insights in the treatment of rare metabolic disorders but probably also of more Frequent conditions in sick newborns and children.

Other research challenges include investigations aiming to understand metabolic processes and response to treatment in vivo (i.e. in the full integrity of the organism). Will help to contribute to insights in the most challenging question why metabolic diseases – although genetically determined – may manifest so differently in the single affected individuals and to help to make treatment as effective as possible.

Journal Publications:

  1. Horvath GA, Davidson AGF, Stockler-Ipsiroglu SG, Lillquist YP, Waters PJ, Olpin S, Andresen BS, Palaty J, Nelson J, Vallance H. Newborn screening for MCAD Deficiency. Experience of the first three years in British Columbia, Canada. Submitted to Canadian Journal of Public Health.​
  2. ​Gravelle A, Guinet L, Jenkins S, Davidson AGF, Cavallin E and Hopkins J. Evaluation of a pilot Cystic Fibrosis “pre-graduation” clinic. Journal of Cystic Fibrosis, Vol 5, suppl 1, p S87, 2006.​​​​
  1. Davidson AGF, Lillqu​ist Y, Jenkins S, Gravelle A, McIlwaine M, Peacock D, Ho S, and Blondel-Hill E. Economic effects of “first growth” therapy for Pseudomonas aeruginosa in Cystic Fibrosis patients – 1995-2005. Journal of Cystic Fibrosis, Vol 5, suppl 1, p S21, 2006.
  1. Innis SM, Davidson AGF, Melnyk S, James SJ. Effect of choline and related supplements on methionine-homocysteine metabolism and glutathione status in children with cystic fibrosis. J Cystic Fibrosis 2006: v5 suppl 1, S68.
  1. McIlwaine M, Wright S, Ho T, Lillquist Y, Davidson G. Does improved adherence to performing physiotherapy treatments in cystic fibrosis patients lead to improved pulmonary function? - a follow-up study”. Pediatric Pulmonol 2006: suppl 29:abst 403.
  1. Innis SM, Davidson AGF, James SJ, Hasman D, Melnyk S. Choline-related supplements improve methyl metabolism and glutathione balance in children with cystic fibrosis. Pediatric Pulmonol 2006; suppl 29: abst 488.
  1. Innis SM, Davidson AGF, Melnyk S, James SJ. Choline-related supplements improve abnormal plasma methionine-homocysteine metabolites and glutathione status in children with cystic fibrosis. Am J Clin Nutr 2007; 85:702-708.
  1. Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, et al. GAMT deficiency. Features, treatment and outcome in an inborn error of creatine synthesis. Neurology 2006;67:480-484 (IF).
  1. Strnadová KA, Holub M, Mühl A, Heinze G, Ratschmann R, Mascher H, Stockler-Ipsiroglu S, Waldhauser F, Votava F, Lebl J, and Bodamer OA. Long-term stability of amino acids and acylcarnitines in dried blood spots. Clin Chem, 2006. In Press. (IF)
  1. Prass K, Royl G, Lindauer U, Freyer D, Megow D, Dirnagl U, Stockler-Ipsiroglu SG, Wallimann T, Priller J. Improved reperfusion and neuroprotection by creatine in a mouse model of stroke. J Cereb Blood Flow Metab 2007, 27, pg. 452-459. (IF).
  1. Mercimek-Mahmutoglu S, Ipsiroglu OS, Feucht M, Buchta-Scheicher B, Haas O, Prayer D, Stockler-Ipsiroglu S. Wolf-Hirschhorn Syndrom und fruehkindliche Epilepsie: Fallbereicht und Literaturuebersicht. Monatsschrift fuer Kinderheilkunde 2007:155; 68-72.
  1. Mercimek-Mahmutoglu S and Stockler-Ipsiroglu S. Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome. Letter to the Editor, The Tohoku Journal of Experimental Medicine, 2007, Vol 211, No 1, pg. 95-96. (IF).
  1. Plecko B, Paul K, Paschke E, Stockler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Erwa W. Biochemical and molecular characterization of 18 patients with pyridoxine dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat. 2007 Jan;28(1):19-26. (IF)
  1. Saadet Mercimek-Mahmutoglu, Birgit Rami, Martha Feucht, Marion Herle, Olaf Rittinger, Sylvia Stoeckler-Ipsiroglu, Edith Schober. Long-term follow up of the patients with congenital hyperinsulinism in Austria. J Pediatr Endocrinol Metab, accepted, March, 2007.
  1. Saadet Mercimek - Mahmutoglu, Stephan Gruber, Arndt Rolfs, Andreas Stadlbauer, Christian Woeber, Peter Kurnik, Till Voigtlaender, Ewald Moser, and Sylvia Stockler – Ipsiroglu. Neurological and brain MRS findings in patients with Gaucher disease type1. Mol Genet Metab, In Press, March, 2007.
  1. Saadet Mercimek - Mahmutoglu, Adolf Muehl, Gajja S. Salomons, Thomas Waldhoer, Birgit Neophytou, Dorothea Moeslinger, Eduard Struys, Olaf A. Bodamer, Cornelis Jakobs, and Sylvia Stockler – Ipsiroglu. Simultaneous measurement of urinary creatine and creatinine by tandem mass-specrometry and determination of the urinary creatine to creatinine ratio for screening of X-linked creatine transporter (SLC6A8) deficiency. J Inherit Metab Dis, submitted, January, 2007.
  1. Horvath GA, Davidson AGF, Stockler-Ipsiroglu SG, Lillquist YP, Waters PJ, Olpin S, Andresen BS, Palaty J, Nelson J, Vallance H. Newborn screening for MCAD Deficiency. Experience of the first three years in British Columbia, Canada. Submitted to Canadian Journal of Public Health.
  1. Coulter-Mackie M, Lian Q. Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: Study of a spectrum of mutations. Mol Genet Metab (2006)89:349-359.
  1. Coulter-Mackie M, White CT, Hurley RM. Primary Hyperoxaluria type 1. In:/GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2007. Available at http://www.genetests.org
  1. Coulter-Mackie MB 4-Hydroxyproline metabolism and glyoxylate production: a target for substrate depletion in primary hyperoxaluria type? Kidney International (2006) 70:1891-1893.
  1. Coulter-Mackie, MB, Lian Q, Wong S, Overexpression of human alanine:glyoxylate aminotransferase in E. coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor. Protein Expression and Purification 2005 41: 18-26
  1. Coulter-Mackie, MB, Lian, Q, Applegarth, D, Toone, J. The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1. Molecular Genetics and Metabolism 86: 172-178 (2005)
  1. Coulter-Mackie, MB. Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype. American Journal of Nephrology 25: 264-268 (2005).
  1. Plecko B. Cortical dysplasias in inborn errors of metabolism. (article in German) Kortikale Dysplasien im Rahmen angeborener Stoffwechselerkrankungen. Mitteilungen der Österreichischen Sektion der Internationalen Liga gegen Epilepsie. 2006; 1: 13. ISSN 1683-6936
  1. Klepper J, Plecko B. Treatable rare epilepsies in childhood. (article in German) Behandelbare seltene Epilepsien im Kindesalter. Epileptologie 2006; 2: 51-57. ISSN 1660-3656.
  1. Ph. Mills, E Struys, C. Jakobs, B. Plecko, P. Baxter, M. Baumgartner, M. Willemsen, H. Omran, U Tacke, B. Uhlenberg, B. Weschke P. Clayton. Mutations in the antiquitin (ALDH7A1) gene in patients with pyridoxine-dependent seizures. Nature Medicine 2006; 12 (3): 307-309,IF 28. 5.
  1. S. Kure, K. Kato, A. Dinopoulos, Ch. Gail, TJ. deGrauw, J. Christodoulou, V. Bzduch, R. Kalmanchey, G. Fekete, A. Trojovsky, B. Plecko, G. Breningstall, J. Tohyama, Y. Aoki, Y. Matsubara. Comprehensive Mutation Analysis of GLDC, AMT and GCSH in Nonketotic Hypergylcinemia. Human Mutation 2006; 27 (4), 343-352, IF 7.9.
  1. T. Kröpfl, E. Mair, J. Deutsch, M. Brunner-Krainz, E. Paschke, B. Plecko (corresponding author)Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes disease. J Inherit Metab Dis 2006; 29: 593, IF 1,586.
  1. Marschitz, S. Rödl, U. Gruber-Sedlmayr, A. Church, G. Giovannoni, G. Zobel, C. Mache, J. Raith, B. Plecko (corresponding author)Severe chorea with positive antibasal ganglia antibodies after herpesencephalitis.J Neurol Neurosurg Psychiatry 2007 Jan;78(1):105-7 IF 4.0.
  1. Hartnett C, Kim H, Scaman CH. Processing techniques affect galactose in selected fruits and vegetables: impact on galactose intake by galactosemic patients. Canadian Journal of Dietetic Practice and Research. 2007 (68) 46-50.

 

Book Chapters:

  1. Stöckler-Ipsiroglu S and Salomons GS. Creatine Deficiency Syndromes. In: Inborn Metabolic Diseases. Diagnosis and Treatment. Fernandes J, Saudubray JM, van den Berghe G (eds). Springer 4th ed 2006, 211-216.
  1. Schütz PW, Stöckler-Ipsiroglu S. Creatine deficiency syndromes. In: Neurobiology of Disease. Gilman S ed; Elevier Inc 2007, 33-42.
  1. Plecko B. The comatous child- metabolic differential diagnoses. (article in German: Das komatöse Kind-Metabolische Differentialdiagnosen). In: Symposia Proceedings 2006: 15-21. Angeborene Stoffwechselerkrankungen: Diagnostik und Management in Akutsituationen. ISBN: 3-936145-30-X.
  1. Rödl S, Mache Ch, Plecko B. Extracorporal procedures in the treatment of metabolic crises. (article in German). Therapie von metabolischen Krisen: Extrakorporale Verfahren. In: Symposia Proceedings 2006: 37-42. Angeborene Stoffwechselerkrankungen: Diagnostik und Management in Akutsituationen. ISBN: 3-936145-30-X.
  1. Paschke E, Plecko B. Newborn Screening for lysosomal diseases? Where are we now? (article in German) Neugeborenenscreening auf lysosomale Erkrankungen? Eine Bestandaufnahme.
  1. In: Symposia Proceedings 2006: 103-113. Angeborene Stoffwechselerkrankungen: Diagnostik und Management in Akutsituationen. ISBN: 3-936145-30-X.
  1. Plecko B. Impaired feeding in inborn errors of metabolism (article in German) Gestörte Nahrungsaufnahme bei Stoffwechselerkrankungen. In: Symposia Proceedings 2006: 31-43. ISBN 3-936145-32-6.
SOURCE: Biochemical Diseases ( )
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