M R Baumgartner

Summary

Affiliation: University of Zurich
Country: Switzerland

Publications

  1. pmc Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy
    Matthias R Baumgartner
    Division of Metabolism and Molecular Pediatrics, University Children s Hospital, Zurich, Switzerland
    Am J Hum Genet 75:790-800. 2004
  2. ncbi request reprint Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency
    M R Baumgartner
    Division of Metabolism and Molecular Pediatrics, University Children s Hospital Zurich, Switzerland
    J Inherit Metab Dis 28:301-9. 2005
  3. ncbi request reprint Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome
    T Baykal
    Department Nutrition and Metabolism, Children s Hospital, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    J Inherit Metab Dis 28:229-33. 2005
  4. ncbi request reprint Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase
    M R Baumgartner
    Department of Pediatrics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
    Hum Mol Genet 9:2853-8. 2000
  5. ncbi request reprint The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin
    D Friebel
    Department of Neuropaediatrics, Children s Hospital, Technical University of Dresden, Dresden, Germany
    Neuropediatrics 37:72-8. 2006
  6. ncbi request reprint Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke
    L Pinto
    Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil
    J Inherit Metab Dis 29:205-6. 2006
  7. ncbi request reprint Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy
    G F Hoffmann
    Department of General Pediatrics, Ruprecht Karls University Heidelberg, Heidelberg, Germany
    J Inherit Metab Dis 30:96-9. 2007
  8. ncbi request reprint Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease
    M R Baumgartner
    Department of Pediatrics, Hopital Necker Enfants Malades, Paris, France
    Neurology 51:1427-32. 1998
  9. pmc The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
    M R Baumgartner
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
    J Clin Invest 107:495-504. 2001
  10. ncbi request reprint Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker
    P Paesold-Burda
    Division of Metabolism and Molecular Pediatrics, University Children s Hospital, Steinwiesstrasse 75, CH 8032, Zurich, Switzerland
    J Inherit Metab Dis 30:896-902. 2007

Collaborators

Detail Information

Publications10

  1. pmc Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy
    Matthias R Baumgartner
    Division of Metabolism and Molecular Pediatrics, University Children s Hospital, Zurich, Switzerland
    Am J Hum Genet 75:790-800. 2004
    ..We show that MCCA-R385S, but not other MCCA missense alleles, reduces the MCC activity of cotransfected MCCA-wild-type allele. Our results suggest that MCCA-R385S is a dominant negative allele and is biotin responsive in vivo...
  2. ncbi request reprint Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency
    M R Baumgartner
    Division of Metabolism and Molecular Pediatrics, University Children s Hospital Zurich, Switzerland
    J Inherit Metab Dis 28:301-9. 2005
    ..Evidence is presented that MCCA-R385S is a dominant negative allele leading to biochemical abnormalities and clinical symptoms in heterozygous individuals and that it is responsive to pharmacological doses of biotin in vivo...
  3. ncbi request reprint Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome
    T Baykal
    Department Nutrition and Metabolism, Children s Hospital, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    J Inherit Metab Dis 28:229-33. 2005
    ..Mutation analysis revealed a homozygous mutation in the splice acceptor site of intron 15 in the MCC beta-subunit. Early-onset severe necrotizing encephalopathy should be included in the differential diagnosis of isolated MCC deficiency...
  4. ncbi request reprint Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase
    M R Baumgartner
    Department of Pediatrics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
    Hum Mol Genet 9:2853-8. 2000
    ..This is the first documented report of an inborn error of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or cataracts and connective tissue disease...
  5. ncbi request reprint The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin
    D Friebel
    Department of Neuropaediatrics, Children s Hospital, Technical University of Dresden, Dresden, Germany
    Neuropediatrics 37:72-8. 2006
    ..Sadly, this patient again also demonstrates that the main determinant of the outcome of even easily treatable metabolic diseases is timely diagnosis...
  6. ncbi request reprint Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke
    L Pinto
    Serviços de Genética Clínica e Neurologia, FFFCMPA, Brazil
    J Inherit Metab Dis 29:205-6. 2006
    ..We report a 3-year-old boy with isolated 3-methylcrotonyl-coenzyme A deficiency with unexpectedly severe presentation, seizures and history of cerebral ischae-mic episode...
  7. ncbi request reprint Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy
    G F Hoffmann
    Department of General Pediatrics, Ruprecht Karls University Heidelberg, Heidelberg, Germany
    J Inherit Metab Dis 30:96-9. 2007
    ..Prompt treatment with PLP in all neonates and infants with epileptic encephalopathy should become mandatory, permitting normal development in at least some of those affected with PNPO deficiency...
  8. ncbi request reprint Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease
    M R Baumgartner
    Department of Pediatrics, Hopital Necker Enfants Malades, Paris, France
    Neurology 51:1427-32. 1998
    ..Characterization of the defect in a patient presenting a peripheral neuropathy with atypical features of distal motor involvement mimicking Werdnig-Hoffmann disease...
  9. pmc The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
    M R Baumgartner
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
    J Clin Invest 107:495-504. 2001
    ..We identify five MCCA and nine MCCB mutant alleles and show that missense mutations in each result in loss of function...
  10. ncbi request reprint Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker
    P Paesold-Burda
    Division of Metabolism and Molecular Pediatrics, University Children s Hospital, Steinwiesstrasse 75, CH 8032, Zurich, Switzerland
    J Inherit Metab Dis 30:896-902. 2007
    ..3 +/- 3.7; range 11.0-19.4). Taken together, we propose serum biotinidase as a diagnostic biomarker for hepatic glycogen storage disorders...