Affiliation: The Hospital for Sick Children
- Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidantsZarazuela Zolkipli
Neurometabolic Research Laboratory, Division of Neurology, Department of Pediatrics, Hospital for Sick Children, Toronto, Canada
PLoS ONE 6:e17534. 2011....
- Disorders of fatty acid oxidationIngrid 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...
- Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish originIngrid 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...
- Role of carnitine and fatty acid oxidation and its defects in infantile epilepsyIngrid 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...
- Carnitine transport: pathophysiology and metabolism of known molecular defectsI Tein
Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada
J Inherit Metab Dis 26:147-69. 2003....
- Glucose-free medium exacerbates microvesicular steatosis in cultured skin fibroblasts of genetic defects of fatty acid oxidation. A novel screening testD 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...
- Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: response to cod liver oilI 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...
- 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...
- Maternally inherited hypertrophic cardiomyopathy: a manifestation of mitochondrial DNA mutations--clinical course in two familiesA 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....
- Characterization of organic cation/carnitine transporter family in human spermWanli 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...
- CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiencyPaul 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...
- 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 levelChristina 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...
- Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathyAnne 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...
- Expression patterns of the organic cation/carnitine transporter family in adult murine brainAnne 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...
- Novel localization of OCTN1, an organic cation/carnitine transporter, to mammalian mitochondriaAnne 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...
- OCTN3 is a mammalian peroxisomal membrane carnitine transporterAnne 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...
- Epitope shared by functional variant of organic cation/carnitine transporter, OCTN1, Campylobacter jejuni and Mycobacterium paratuberculosis may underlie susceptibility to Crohn's disease at 5q31Anne 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...
- Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiencyStephen 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...
- 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...
- Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutationMubeen 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...
- Skeletal muscle metabolic dysfunction in obesity and metabolic syndromeGreg 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...
- Neonatal blood carnitine concentrations: normative data by electrospray tandem mass spectometryDonald H Chace
Neo Gen Screening, Division of BioAnalytical Chemistry and Mass Spectrometry, Bridgeville, PA 15017, USA
Pediatr Res 53:823-9. 2003....
- Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunitJessie 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...