M Tuchman

Summary

Affiliation: Children's National Medical Center
Country: USA

Publications

  1. pmc Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
    Jennifer Seminara
    Children s National Medical Center, Washington, DC 20010, USA
    Mol Genet Metab 100:S97-105. 2010
  2. pmc A novel bifunctional N-acetylglutamate synthase-kinase from Xanthomonas campestris that is closely related to mammalian N-acetylglutamate synthase
    Qiuhao Qu
    Children s Research Institute, Children s National Medical Center, The George Washington University, Washington, DC 20010, USA
    BMC Biochem 8:4. 2007
  3. pmc Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods
    Nantaporn Haskins
    Research Center for Genetic Medicine, Children s National Medical Center, 111 Michigan Ave NW, Washington, DC 20010, USA
    BMC Biochem 9:24. 2008
  4. ncbi request reprint The molecular basis of ornithine transcarbamylase deficiency
    M Tuchman
    Children s Research Institute, Children s National Medical Center, Washington, DC 20010 2970, USA
    Eur J Pediatr 159:S196-8. 2000
  5. pmc Cross-sectional multicenter study of patients with urea cycle disorders in the United States
    Mendel Tuchman
    Children s National Medical Center, The George Washington University, School of Medicine, 111 Michigan Avenue, N W, Washington, DC 20010, USA
    Mol Genet Metab 94:397-402. 2008
  6. pmc N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers
    Mendel Tuchman
    Children s Research Institute, Children s National Medical Center, George Washington University, Washington, DC 20052, USA
    Pediatr Res 64:213-7. 2008
  7. ncbi request reprint Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
    P L Pearl
    Department of Neurology, Children s National Medical Center, George Washington University School of Health Sciences, Washington, DC 20010 2970, USA
    Neurology 60:1413-7. 2003
  8. pmc 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency
    A L Gropman
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA
    Mol Genet Metab 95:21-30. 2008
  9. pmc Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis
    Nicholas Ah Mew
    Research Center for Genetic Medicine, Children s National Medical Center, The George Washington University, Washington, DC 20010, USA
    Mol Genet Metab 98:325-30. 2009
  10. ncbi request reprint Alternative pathway therapy for urea cycle disorders: twenty years later
    M L Batshaw
    Children's National Medical Center, Washington, DC 20010, USA
    J Pediatr 138:S46-54; discussion S54-5. 2001

Collaborators

  • BRENDAN HL LEE
  • Uta Lichter-Konecki
  • M Yudkoff
  • Itzhak Nissim
  • P L Pearl
  • A L Gropman
  • W H Theodore
  • M T Acosta
  • Marshall Summar
  • Rachel Richesson
  • Lauren Krivitzky
  • Nicholas Ah Mew
  • Dietrich Matern
  • Ljubica Caldovic
  • Hiroki Morizono
  • Nicholas Ah Mew
  • Dashuang Shi
  • Yevgeny Daikhin
  • Qiuhao Qu
  • Jennifer Seminara
  • Nantaporn Haskins
  • Juan Cabrera-Luque
  • Steven F Dobrowolski
  • Saori Yamaguchi
  • Regina Ensenauer
  • Jun ichi Takanashi
  • William G Woods
  • M L Batshaw
  • Margretta R Seashore
  • Douglas S Kerr
  • Renata C Gallagher
  • Matthias Baumgartner
  • J Lawrence Merritt
  • George A Diaz
  • Robert McCarter
  • Cary O Harding
  • Shawn E McCandless
  • Mary Lou Oster-Granite
  • Mark L Batshaw
  • Susan Waisbren
  • Stephen Cederbaum
  • Cynthia LeMons
  • Annette Feigenbaum
  • Hye Seung Lee
  • Brendan Lanpher
  • Jeffrey Krischer
  • Tamar Stricker
  • Irma Payan
  • Himani Majumdar
  • Maria Panglao
  • Clinton E Ellingson
  • Xiaolin Yu
  • Allen E Bale
  • Lisa L Brailey
  • Lauren Roth
  • Norma M Allewell
  • Michael H Malamy
  • Dusica Babovic-Vuksanovic
  • Maria G Panglao
  • Mounif El-Youssef
  • Michael B Ishitani
  • Giselle Y Lopez
  • Suresh Kotagal
  • Robert J McCarter
  • Seymour Packman
  • A James Barkovich
  • Kara Weisiger
  • Sabrina F Cheng
  • Carol O Zlatunich
  • Christine Mudge
  • Philip Rosenthal
  • Josee Brossard
  • Bernard Lemieux
  • Geoffrey Dougherty
  • Sheila Weitzman
  • Greta Bunin
  • Ru Nie Gao
  • Jonathan J Shuster
  • Leslie L Robison
  • Mark Bernstein
  • Isra Levy
  • R B MacArthur

Detail Information

Publications21

  1. pmc Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
    Jennifer Seminara
    Children s National Medical Center, Washington, DC 20010, USA
    Mol Genet Metab 100:S97-105. 2010
    ....
  2. pmc A novel bifunctional N-acetylglutamate synthase-kinase from Xanthomonas campestris that is closely related to mammalian N-acetylglutamate synthase
    Qiuhao Qu
    Children s Research Institute, Children s National Medical Center, The George Washington University, Washington, DC 20010, USA
    BMC Biochem 8:4. 2007
    ..However, mammalian NAGS no longer retains any NAGK catalytic activity...
  3. pmc Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods
    Nantaporn Haskins
    Research Center for Genetic Medicine, Children s National Medical Center, 111 Michigan Ave NW, Washington, DC 20010, USA
    BMC Biochem 9:24. 2008
    ..Arginine is an allosteric inhibitor of microbial and plant NAGS, and allosteric activator of mammalian NAGS...
  4. ncbi request reprint The molecular basis of ornithine transcarbamylase deficiency
    M Tuchman
    Children s Research Institute, Children s National Medical Center, Washington, DC 20010 2970, USA
    Eur J Pediatr 159:S196-8. 2000
    ..Several symptomatic and asymptomatic adults have now been identified to have deleterious mutations in the OTC gene leading to predisposition to hyperammonemia...
  5. pmc Cross-sectional multicenter study of patients with urea cycle disorders in the United States
    Mendel Tuchman
    Children s National Medical Center, The George Washington University, School of Medicine, 111 Michigan Avenue, N W, Washington, DC 20010, USA
    Mol Genet Metab 94:397-402. 2008
    ..Plasma glutamine levels were higher in proximal UCD and in neonatal type disease. The RDCRN allows comprehensive analyses of rare inherited UCD, their frequencies and current medical practices...
  6. pmc N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers
    Mendel Tuchman
    Children s Research Institute, Children s National Medical Center, George Washington University, Washington, DC 20052, USA
    Pediatr Res 64:213-7. 2008
    ..These results provide a reliable method for measuring the effect of NCG on nitrogen metabolism and strongly suggest that NCG could be an effective treatment for inherited and secondary NAGS deficiency...
  7. ncbi request reprint Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
    P L Pearl
    Department of Neurology, Children s National Medical Center, George Washington University School of Health Sciences, Washington, DC 20010 2970, USA
    Neurology 60:1413-7. 2003
    ..Urine organic acid analysis should include a sensitive method for the detection of 4-hydroxybutyrate and should be obtained from patients with mental retardation or neuropsychiatric disturbance of unknown etiology...
  8. pmc 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency
    A L Gropman
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA
    Mol Genet Metab 95:21-30. 2008
    ..To evaluate brain metabolism in subjects with partial ornithine transcarbamylase deficiency (OTCD) utilizing (1)H MRS...
  9. pmc Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis
    Nicholas Ah Mew
    Research Center for Genetic Medicine, Children s National Medical Center, The George Washington University, Washington, DC 20010, USA
    Mol Genet Metab 98:325-30. 2009
    ..No untoward side effects were observed. The data indicate that treatment with NCG stimulates ureagenesis and could be useful in clinical settings of acute hyperammonemia of various etiologies...
  10. ncbi request reprint Alternative pathway therapy for urea cycle disorders: twenty years later
    M L Batshaw
    Children's National Medical Center, Washington, DC 20010, USA
    J Pediatr 138:S46-54; discussion S54-5. 2001
    ..There should also be the continued search for innovative therapies that may offer a more permanent and complete correction, such as gene therapy...
  11. pmc N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia
    Nicholas Ah Mew
    Research Center for Genetic Medicine, Children s National Medical Center, George Washington University, Washington, DC 20010, USA
    Pediatrics 126:e208-14. 2010
    ..The objective of this study was to determine whether N-carbamylglutamate (NCG) reduces plasma levels of ammonia and glutamine and increases the rate of ureagenesis in patients with propionic acidemia (PA)...
  12. ncbi request reprint Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate
    Ljubica Caldovic
    Children s Research Institute, Children s National Medical Center, The George Washington University, Washington, DC 20010, USA
    J Pediatr 145:552-4. 2004
    ..Blood ammonia rose following ammonium tracer ingestion before treatment but remained low following treatment. Serum urea concentration doubled following the treatment...
  13. ncbi request reprint Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles
    Ljubica Caldovic
    Children s Research Institute, Children s National Medical Center, The George Washington University, Washington, DC 20010, USA
    Hum Mutat 25:293-8. 2005
    ..These studies provide a better understanding of the function of NAGS, and the mechanisms for deleterious effect of mutations causing inherited NAGS deficiency...
  14. ncbi request reprint Structure and catalytic mechanism of a novel N-succinyl-L-ornithine transcarbamylase in arginine biosynthesis of Bacteroides fragilis
    Dashuang Shi
    Children s Research Institute, Children s National Medical Center, George Washington University, Washington, D C 20010, USA
    J Biol Chem 281:20623-31. 2006
    ..These findings provide new information on the putative role of succinylated intermediates in arginine biosynthesis and on the evolution of transcarbamylases...
  15. ncbi request reprint Mutations and polymorphisms in the human ornithine transcarbamylase gene
    Mendel Tuchman
    Children s Research Institute, Children s National Medical Center, George Washington University, Washington DC, USA
    Hum Mutat 19:93-107. 2002
    ..Even with sequencing of the entire reading frame and exon/intron boundaries, only about 80% of the mutations are detected in patients with proven OTC deficiency. The remaining probably occur within the introns or in regulatory domains...
  16. pmc N-acetylglutamate and its changing role through evolution
    Ljubica Caldovic
    Children s Research Institute, Children s National Medical Center, The George Washington University, 111 Michigan Ave NW, Washington, DC 20010, USA
    Biochem J 372:279-90. 2003
    ..Several mutations have been recently identified in the NAGS genes of families affected with this disorder...
  17. ncbi request reprint Screening of infants and mortality due to neuroblastoma
    William G Woods
    AFLAC Cancer Center, Emory University and Children s Healthcare of Atlanta, GA 30322, USA
    N Engl J Med 346:1041-6. 2002
    ..However, it is unknown whether routine screening for neuroblastoma reduces mortality due to this disease...
  18. ncbi request reprint Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders
    Jun ichi Takanashi
    Neuroradiology Section, Department of Radiology, University of California San Francisco, San Francisco, CA, USA
    AJNR Am J Neuroradiol 24:1184-7. 2003
    ..We hypothesize that these lesions presumably reflect the distribution of brain injury due to hypoperfusion secondary to hyperammonemia and hyperglutaminemia in the neonatal period...
  19. ncbi request reprint Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system
    Steven F Dobrowolski
    Idaho Technology, Salt Lake City, Utah 84108, USA
    Hum Mutat 28:1133-40. 2007
    ..This system provides a rapid means to localize sequence variants, markedly reducing the need for DNA sequencing, and is applicable to other genes and disorders...
  20. ncbi request reprint Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene
    Saori Yamaguchi
    College of Life Science, University of Maryland, College Park, Maryland, USA
    Hum Mutat 27:626-32. 2006
    ..5% of the genomic sequence. In addition, a phenocopy of OTC deficiency caused by mutations in another unknown gene cannot be excluded...
  21. ncbi request reprint Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life
    Regina Ensenauer
    Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN, USA
    Mol Genet Metab 84:363-6. 2005
    ..Although technically challenging in the neonatal period, liver transplantation should be considered early as the most promising treatment approach currently available...

Research Grants28

  1. N-acetylglutamate Synthase: Structure, Function & Defects
    Mendel Tuchman; Fiscal Year: 2009
    ..This will lead to constructing a structural model of mammalian NAGS, deriving at a catalytic mechanism, determining the mechanism of arginine effect, and the effects of mutations causing NAGS dysfunction and hyperammonemia. ..
  2. N-carbamylglutamate in the treatment of hyperammonemia
    Mendel Tuchman; Fiscal Year: 2009
    ....
  3. N-acetylglutamate Synthase: Structure, Function & Defects
    Mendel Tuchman; Fiscal Year: 2009
    ..The results from this project could allow the development of new treatments for elevated ammonia levels to protect the brain from its toxic effects. ..
  4. N-acetylglutamate Synthase: Structure, Function & Defects
    Mendel Tuchman; Fiscal Year: 2010
    ..This will lead to constructing a structural model of mammalian NAGS, deriving at a catalytic mechanism, determining the mechanism of arginine effect, and the effects of mutations causing NAGS dysfunction and hyperammonemia. ..
  5. N-carbamylglutamate in the treatment of hyperammonemia
    Mendel Tuchman; Fiscal Year: 2009
    ..If the results confirm our hypothesis, these patients can be treated with Carbaglu to keep their ammonia level at normal or close to normal levels, protecting them from brain damage. ..
  6. N-carbamylglutamate in the treatment of hyperammonemia
    Mendel Tuchman; Fiscal Year: 2010
    ....
  7. The molecular bases of inherited urea cycle disorders and ureagenesis regulation
    Mendel Tuchman; Fiscal Year: 2010
    ....
  8. N-acetylglutamate Synthase: Structure, Function & Defects
    Mendel Tuchman; Fiscal Year: 2010
    ..This will lead to constructing a structural model of mammalian NAGS, deriving at a catalytic mechanism, determining the mechanism of arginine effect, and the effects of mutations causing NAGS dysfunction and hyperammonemia. ..
  9. The molecular bases of inherited urea cycle disorders and ureagenesis regulation
    Mendel Tuchman; Fiscal Year: 2007
    ....
  10. MOLECULAR BASIS OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY
    Mendel Tuchman; Fiscal Year: 2001
    ....
  11. Pediatric Clinical Research Scholar Program - Washington
    Mendel Tuchman; Fiscal Year: 2004
    ..abstract_text> ..
  12. Molecular Basis of OTC Deficiency and Related Disorders
    Mendel Tuchman; Fiscal Year: 2005
    ..abstract_text> ..
  13. N-acetylglutamate synthase: structure, & defects
    Mendel Tuchman; Fiscal Year: 2006
    ..abstract_text> ..
  14. N-carbamylglutamate in the treatment of hyperammonemia
    Mendel Tuchman; Fiscal Year: 2010
    ..Successful conclusion of the study may also afford a rationale for the investigation of other diseases and conditions that are complicated by hyperammonemia, including liver failure of diverse etiology and treatment with valproic acid. ..