Saadet Mercimek-Mahmutoglu

Summary

Affiliation: The Hospital for Sick Children
Country: Canada

Publications

  1. doi request reprint A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene
    S Mercimek-Mahmutoglu
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Canada Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada Electronic address
    Gene 575:127-31. 2016
  2. pmc Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
    Saadet Mercimek-Mahmutoglu
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada
    Orphanet J Rare Dis 10:12. 2015
  3. doi request reprint Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet
    Saadet Mercimek-Mahmutoglu
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada Electronic address
    Eur J Paediatr Neurol 18:741-6. 2014
  4. doi request reprint Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate
    Saadet Mercimek-Mahmutoglu
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada Electronic address
    Pediatr Neurol 51:133-7. 2014
  5. doi request reprint Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy
    Saadet Mercimek-Mahmutoglu
    Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Pediatrics 129:e1368-72. 2012
  6. doi request reprint Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease
    S Mercimek-Mahmutoglu
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada
    Mol Genet Metab 107:433-7. 2012
  7. doi request reprint Treatment of intractable epilepsy in a female with SLC6A8 deficiency
    Saadet Mercimek-Mahmutoglu
    Department of Pediatrics, Division of Biochemical Diseases, British Columbia Children s Hospital, UBC, Canada
    Mol Genet Metab 101:409-12. 2010
  8. doi request reprint Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene
    Caro Lyne DesRoches
    Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Canada
    Mol Genet Genomics 290:2163-71. 2015
  9. doi request reprint Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials
    Clara D M van Karnebeek
    Division of Biochemical Diseases, Department of Pediatrics, BC Children s Hospital, University of British Columbia, Vancouver, Canada
    Mol Genet Metab 107:335-44. 2012
  10. doi request reprint Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
    Saadet Mercimek-Mahmutoglu
    Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Epilepsia 56:707-16. 2015

Collaborators

Detail Information

Publications24

  1. doi request reprint A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene
    S Mercimek-Mahmutoglu
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Canada Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada Electronic address
    Gene 575:127-31. 2016
    ..Normal neurodevelopmental outcome has been reported in patients treated from neonatal period highlighting the importance of early treatment...
  2. pmc Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
    Saadet Mercimek-Mahmutoglu
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada
    Orphanet J Rare Dis 10:12. 2015
    ..Inherited neurotransmitter disorders are primary defects of neurotransmitter metabolism. The main purpose of this retrospective cohort study was to identify prevalence of inherited neurotransmitter disorders...
  3. doi request reprint Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet
    Saadet Mercimek-Mahmutoglu
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada Electronic address
    Eur J Paediatr Neurol 18:741-6. 2014
    ....
  4. doi request reprint Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate
    Saadet Mercimek-Mahmutoglu
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada Electronic address
    Pediatr Neurol 51:133-7. 2014
    ..Guanidinoacetate methyltransferase deficiency is an autosomal recessively inherited disorder of creatine biosynthesis. We report a new patient with guanidinoacetate methyltransferase deficiency and her >3-year treatment outcome...
  5. doi request reprint Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy
    Saadet Mercimek-Mahmutoglu
    Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Pediatrics 129:e1368-72. 2012
    ..PDE should be included in the differential diagnosis of hypoglycemia and lactic acidosis in addition to medically refractory neonatal seizures...
  6. doi request reprint Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease
    S Mercimek-Mahmutoglu
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada
    Mol Genet Metab 107:433-7. 2012
    ..Normal neurodevelopmental outcome in a patient, treated in the newborn period, highlights the importance of early diagnosis...
  7. doi request reprint Treatment of intractable epilepsy in a female with SLC6A8 deficiency
    Saadet Mercimek-Mahmutoglu
    Department of Pediatrics, Division of Biochemical Diseases, British Columbia Children s Hospital, UBC, Canada
    Mol Genet Metab 101:409-12. 2010
    ..Heterozygous SLC6A8 deficiency is a potentially treatable condition and should be considered in females with intractable epilepsy and developmental delay/intellectual disability...
  8. doi request reprint Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene
    Caro Lyne DesRoches
    Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Canada
    Mol Genet Genomics 290:2163-71. 2015
    ....
  9. doi request reprint Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials
    Clara D M van Karnebeek
    Division of Biochemical Diseases, Department of Pediatrics, BC Children s Hospital, University of British Columbia, Vancouver, Canada
    Mol Genet Metab 107:335-44. 2012
    ....
  10. doi request reprint Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
    Saadet Mercimek-Mahmutoglu
    Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Epilepsia 56:707-16. 2015
    ..Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a single epilepsy genetics clinic...
  11. doi request reprint Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry
    Saadet Mercimek-Mahmutoglu
    Department of Pediatrics, Division of Biochemical Diseases, British Columbia Children s Hospital, University of British Columbia, 4480 Oak Street, Vancouver, BC, Canada V6H 3V4
    Mol Genet Metab 96:273-5. 2009
    ..U-CrCrtR increased up to 8 years and decreased thereafter. U-CrCrtR was 2.29 and 2.12 (99th percentile: 1.87) in two males with subsequently confirmed SLC6A8 mutations. The frequency of SLC6A8 deficiency was 2.3% in 157 males at risk...
  12. doi request reprint Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency
    Saadet Mercimek-Mahmutoglu
    Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada
    Mol Genet Metab 105:155-8. 2012
    ..We report the most favorable clinical and biochemical outcome on treatment in our patient...
  13. doi request reprint Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene
    Catherine Brunel-Guitton
    Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Canada
    Mol Genet Metab 103:193-6. 2011
    ..605C>T; p.Ala202Val) in the GLDC gene, confirming the diagnosis of NKH. This is the first report of late-onset NKH with a confirmed underlying genetic defect. NKH should be in the differential diagnosis of intermittent choreoathetosis...
  14. doi request reprint Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene
    Caro Lyne DesRoches
    Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada
    Gene 565:187-91. 2015
    ....
  15. doi request reprint The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada
    Anne Roscher
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada Medical University of Vienna, Department of Pediatric and Adolescent Medicine, Vienna, Austria
    Mol Genet Metab 113:171-6. 2014
    ..To evaluate the natural history and long-term treatment outcome of the patients with GSD-VI and -IX, we performed an observational retrospective case study of 21 patients with confirmed diagnosis of GSD-VI or -IX...
  16. doi request reprint Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up
    Sylvia Stockler
    Division of Biochemical Diseases, British Columbia Children s Hospital, University of British Columbia, 4480 Oak Street, Vancouver BC, Canada V6H 3V4
    Mol Genet Metab 104:48-60. 2011
    ..Commencing treatment with PLP will not delay treatment in patients with pyridox(am)ine phosphate oxidase (PNPO) deficiency who are responsive to PLP only...
  17. doi request reprint Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome
    Enas Nasr
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada
    J Child Neurol 30:648-53. 2015
    ..Both patients had specific borderline impairments in visual processing speed. More long-term treatment outcome reports will increase our knowledge about the natural history of the disease. ..
  18. doi request reprint Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring
    Sylvia Stockler-Ipsiroglu
    Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada Electronic address
    Mol Genet Metab 111:16-25. 2014
    ..One with inconsistent compliance had a borderline IQ at age 8.6 years. An observational GAMT database will be essential to identify the best treatment to reduce plasma guanidinoacetate levels and improve long-term outcomes...
  19. doi request reprint New Paradigm for the Treatment of Glucose Transporter 1 Deficiency Syndrome: Low Glycemic Index Diet and Modified High Amylopectin Cornstarch
    Mohammed Almuqbil
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada Division of Pediatric Neurology, Montreal Children s Hospital McGill University Health Center, Montreal, Canada Division of Pediatric Neurology, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
    Pediatr Neurol 53:243-6. 2015
    ....
  20. doi request reprint Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency
    Tatiana Munoz
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada
    Brain Dev 37:168-70. 2015
    ..This case suggests that homocysteine measurement should be included in the investigations of patients with developmental delay, hypotonia and scoliosis within first year of life prior to organizing genetic investigations...
  21. doi request reprint Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene
    Saadet Mercimek-Mahmutoglu
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Hum Mutat 35:462-9. 2014
    ..Our functional assay is important for the confirmation of the pathogenicity of identified missense variants in the GAMT gene. ..
  22. doi request reprint Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion
    Saadet Mercimek-Mahmutoglu
    Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Mol Genet Metab 104:410-3. 2011
    ..The diagnosis was confirmed by a demonstration of 3-methylglutaconyl-CoA hydratase enzyme deficiency in the cultured skin fibroblasts and homozygous deletion of exons 1-3 within the AUH gene...
  23. doi request reprint Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons
    Ying Fai Ngai
    Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 152:2784-90. 2010
    ..Though somatic mosaicism for activating GNAS mutations is known to occur in McCune-Albright syndrome, this is the first report confirming somatic mosaicism for a hypofunctioning GNAS mutation in a PHP kindred...
  24. doi request reprint Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler
    Saadet Mercimek-Mahmutoglu
    Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children s Hospital, Vancouver, Canada
    World J Pediatr 5:319-21. 2009
    ..Enzyme replacement therapy (ERT) has been increasingly used as an interim treatment in severe mucopolysaccharidosis type I (MPSI)/Hurler patients prior to hematopoietic stem cell transplantation (HSCT)...