I Tein

Summary

Affiliation: The Hospital for Sick Children
Country: Canada

Publications

  1. doi request reprint Disorders of fatty acid oxidation
    Ingrid Tein
    Neurometabolic Clinic and Research Laboratory, Division of Neurology and Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, University of Toronto, Toronto, Canada Electronic address
    Handb Clin Neurol 113:1675-88. 2013
  2. ncbi request reprint Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin
    Ingrid Tein
    Division of Neurology, Department of Pediatrics, Laboratory Medicine and Pathobiology, Hospital for Sick Children, University of Toronto, Toronto, Canada M5G 1X8
    Mol Genet Metab 93:179-89. 2008
  3. ncbi request reprint Carnitine transport: pathophysiology and metabolism of known molecular defects
    I Tein
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada
    J Inherit Metab Dis 26:147-69. 2003
  4. ncbi request reprint Role of carnitine and fatty acid oxidation and its defects in infantile epilepsy
    Ingrid Tein
    Division of Neurology, The Hospital for Sick Children, 555 University Ave, Toronto, ON M5G 1X8
    J Child Neurol 17:3S57-82; discussion 3S82-3. 2002
  5. ncbi request reprint Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: response to cod liver oil
    I Tein
    Department of Pediatrics, University of Toronto, Ontario, Canada
    Neurology 52:640-3. 1999
  6. ncbi request reprint OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation?
    A M Lamhonwah
    Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    J Inherit Metab Dis 27:473-6. 2004
  7. ncbi request reprint Glucose-free medium exacerbates microvesicular steatosis in cultured skin fibroblasts of genetic defects of fatty acid oxidation. A novel screening test
    D L Renaud
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    J Inherit Metab Dis 25:547-55. 2002
  8. ncbi request reprint Maternally inherited hypertrophic cardiomyopathy: a manifestation of mitochondrial DNA mutations--clinical course in two families
    A I Dipchand
    Department of Pediatrics, The Hospital for Sick Children and the University of Toronto Faculty of Medicine, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8
    Pediatr Cardiol 22:14-22. 2001
  9. ncbi request reprint Expression patterns of the organic cation/carnitine transporter family in adult murine brain
    Anne Marie Lamhonwah
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, 555 University Avenue, University of Toronto, Toronto, Ont, Canada M5G 1X8
    Brain Dev 30:31-42. 2008
  10. ncbi request reprint Novel localization of OCTN1, an organic cation/carnitine transporter, to mammalian mitochondria
    Anne Marie Lamhonwah
    Division of Neurology, Department of Pediatrics, University of Toronto, Ont, Canada
    Biochem Biophys Res Commun 345:1315-25. 2006

Collaborators

Detail Information

Publications22

  1. doi request reprint Disorders of fatty acid oxidation
    Ingrid Tein
    Neurometabolic Clinic and Research Laboratory, Division of Neurology and Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, University of Toronto, Toronto, Canada Electronic address
    Handb Clin Neurol 113:1675-88. 2013
    ..The identification of serum acylcarnitines by electrospray ionization-tandem mass spectrometry of dried blood spots on filter paper in newborn screening programs has significantly enhanced the early recognition of these disorders...
  2. ncbi request reprint Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin
    Ingrid Tein
    Division of Neurology, Department of Pediatrics, Laboratory Medicine and Pathobiology, Hospital for Sick Children, University of Toronto, Toronto, Canada M5G 1X8
    Mol Genet Metab 93:179-89. 2008
    ..This should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim...
  3. ncbi request reprint Carnitine transport: pathophysiology and metabolism of known molecular defects
    I Tein
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada
    J Inherit Metab Dis 26:147-69. 2003
    ....
  4. ncbi request reprint Role of carnitine and fatty acid oxidation and its defects in infantile epilepsy
    Ingrid Tein
    Division of Neurology, The Hospital for Sick Children, 555 University Ave, Toronto, ON M5G 1X8
    J Child Neurol 17:3S57-82; discussion 3S82-3. 2002
    ..Indications for carnitine supplementation in childhood epilepsy are also discussed...
  5. ncbi request reprint Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: response to cod liver oil
    I Tein
    Department of Pediatrics, University of Toronto, Ontario, Canada
    Neurology 52:640-3. 1999
    ..Nerve conduction studies (NCS) demonstrated reappearance of previously absent posterior tibial and peroneal nerve responses and the amplitudes on motor ulnar and median NCS markedly increased from 7- to 14-fold, respectively...
  6. ncbi request reprint OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation?
    A M Lamhonwah
    Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    J Inherit Metab Dis 27:473-6. 2004
    ..Western blot analysis of skin fibroblast lysates from the proband with our specific anti-murine OCTN2 antibody revealed the absence of the OCTN2 protein...
  7. ncbi request reprint Glucose-free medium exacerbates microvesicular steatosis in cultured skin fibroblasts of genetic defects of fatty acid oxidation. A novel screening test
    D L Renaud
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    J Inherit Metab Dis 25:547-55. 2002
    ..The demonstration of microvesicular steatosis in parenchymal and/or cultured skin fibroblasts may provide important and cost-effective screening tools for the detection of genetic defects of fatty acid oxidation...
  8. ncbi request reprint Maternally inherited hypertrophic cardiomyopathy: a manifestation of mitochondrial DNA mutations--clinical course in two families
    A I Dipchand
    Department of Pediatrics, The Hospital for Sick Children and the University of Toronto Faculty of Medicine, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8
    Pediatr Cardiol 22:14-22. 2001
    ....
  9. ncbi request reprint Expression patterns of the organic cation/carnitine transporter family in adult murine brain
    Anne Marie Lamhonwah
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, 555 University Avenue, University of Toronto, Toronto, Ont, Canada M5G 1X8
    Brain Dev 30:31-42. 2008
    ..Organic cation/carnitine transporters transport carnitine, drugs, and xenobiotics (e.g. choline, acetylcarnitine, betaine, valproic acid), and are expressed in muscle, heart, blood vessels, kidney, gut, etc...
  10. ncbi request reprint Novel localization of OCTN1, an organic cation/carnitine transporter, to mammalian mitochondria
    Anne Marie Lamhonwah
    Division of Neurology, Department of Pediatrics, University of Toronto, Ont, Canada
    Biochem Biophys Res Commun 345:1315-25. 2006
    ..This suggests an important yet different role for OCTN1 from other OCTN family members in intracellular carnitine homeostasis...
  11. doi request reprint The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level
    Christina B Pedersen
    Research Unit for Molecular Medicine, Skejby and Faculty of Health Sciences, Aarhus University Hospital, Brendstrupgaardsvej 100, 8200, Aarhus, Denmark
    Hum Genet 124:43-56. 2008
    ..We propose that SCAD deficiency should be considered as a disorder of protein folding that can lead to clinical disease in combination with other genetic and environmental factors...
  12. ncbi request reprint Epitope shared by functional variant of organic cation/carnitine transporter, OCTN1, Campylobacter jejuni and Mycobacterium paratuberculosis may underlie susceptibility to Crohn's disease at 5q31
    Anne Marie Lamhonwah
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ont, Canada
    Biochem Biophys Res Commun 337:1165-75. 2005
    ..This impairment of l-carnitine transport by OCTN1 may respond to high-dose l-carnitine therapy...
  13. doi request reprint CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
    Paul J Isackson
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, SUNY at Buffalo, 100 High Street, Buffalo, NY 14203, USA
    Mol Genet Metab 94:422-7. 2008
    ..In addition, based on currently available structural, biochemical and clinical data, we have classified all 64 known disease-causing mutations into groups with different predicted phenotypes depending on their CPT2 allelic counterparts...
  14. ncbi request reprint Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy
    Anne Marie Lamhonwah
    Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet 111:271-84. 2002
    ..Most importantly, strict compliance with carnitine from birth appears to prevent the phenotype...
  15. ncbi request reprint Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency
    Stephen D Cederbaum
    Department of Psychiatry, UCLA, 760 Westwood Plaza, Los Angeles, CA 90024 1759, USA
    Mol Genet Metab 77:195-201. 2002
    ..The 13/19bp insertions were found in both parents, predominantly in cis with the deletion, and rarely seen with normal alleles from either parents or controls...
  16. ncbi request reprint A third human carnitine/organic cation transporter (OCTN3) as a candidate for the 5q31 Crohn's disease locus (IBD5)
    Anne Marie Lamhonwah
    Department of Pediatrics, Division of Neurology, The Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, Ont, Canada M5G 1X8
    Biochem Biophys Res Commun 301:98-101. 2003
    ..Its functional properties and inferred chromosomal location implicate it for involvement in Crohn's disease...
  17. ncbi request reprint Characterization of organic cation/carnitine transporter family in human sperm
    Wanli Xuan
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Ont, M5G 1X8, Toronto, Canada
    Biochem Biophys Res Commun 306:121-8. 2003
    ..7+/-20.5 pmol/min/mg protein; n=18). Identification of individuals with defective sperm carnitine transport may provide potentially treatable etiologies of male infertility, responsive to L-carnitine supplementation...
  18. ncbi request reprint OCTN3 is a mammalian peroxisomal membrane carnitine transporter
    Anne Marie Lamhonwah
    Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada
    Biochem Biophys Res Commun 338:1966-72. 2005
    ..This Octn3 localization is in keeping with the essential role of carnitine in peroxisomal lipid metabolism...
  19. ncbi request reprint Skeletal muscle metabolic dysfunction in obesity and metabolic syndrome
    Greg D Wells
    Department of Anesthesia, The Hospital for Sick Children, Toronto General Hospital, University of Toronto, Toronto, Canada
    Can J Neurol Sci 35:31-40. 2008
    ..A physiological model of the effect of intramyocellular lipid accumulation on oxidative metabolism and insulin mediated glucose uptake is proposed...
  20. ncbi request reprint Neonatal blood carnitine concentrations: normative data by electrospray tandem mass spectometry
    Donald H Chace
    Neo Gen Screening, Division of BioAnalytical Chemistry and Mass Spectrometry, Bridgeville, PA 15017, USA
    Pediatr Res 53:823-9. 2003
    ....
  21. ncbi request reprint Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation
    Mubeen F Rafay
    Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario
    Can J Neurol Sci 32:316-20. 2005
    ..Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder which presents with recurrent myoglobinuria. Heterozygotes are usually asymptomatic...
  22. ncbi request reprint Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit
    Jessie M Cameron
    Metabolism Research Programme, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 131:59-66. 2004
    ..The nature of these mutations illustrates the variability in phenotype for a given gene defect, with intermittent ataxia being the mildest presentation, Leigh syndrome being the most common and severe neonatal LA the most severe...