Research Topics
| M YudkoffSummaryAffiliation: The Children's Hospital of Philadelphia Country: USA Publications
Research Grants
| Collaborators
|
Detail Information
Publications
Agmatine stimulates hepatic fatty acid oxidation: a possible mechanism for up-regulation of ureagenesisItzhak Nissim
Children's Hospital of Philadelphia, Division of Child Development, Rehabilitation Medicine, and Metabolic Disease, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
J Biol Chem 281:8486-96. 2006..This action of agmatine may be mediated via a second messenger such as cAMP, and the effects on ureagenesis and fatty acid oxidation may occur simultaneously and/or independently...- Short-term fasting, seizure control and brain amino acid metabolismMarc Yudkoff
Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, 19104, USA
Neurochem Int 48:650-6. 2006.... 
Measuring in vivo ureagenesis with stable isotopesMarc Yudkoff
Children s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Mol Genet Metab 100:S37-41. 2010..Finally, the use of isotopes affords an ideal tool with which to gauge the efficacy of therapeutic interventions to augment residual flux through the cycle...- Response of brain amino acid metabolism to ketosisMarc Yudkoff
Department of Pediatrics, University of Pennsylvania School of Medicine, Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
Neurochem Int 47:119-28. 2005.... - Ketogenic diet, brain glutamate metabolism and seizure controlMarc Yudkoff
Department of Pediatrics, University of Pennsylvania School of Medicine, Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
Prostaglandins Leukot Essent Fatty Acids 70:277-85. 2004..Since brain glutamine is formed in astrocytes from glutamate, the overall effect will be to favor the release of glutamate from the nervous system... - Metabolism of brain amino acids following pentylenetetrazole treatmentMarc Yudkoff
Department of Pediatrics, Division of Child Development, School of Medicine, Children s Hospital of Philadelphia, University of Pennsylvania, 34th Street and Civic Center Blvd, Philadelphia, PA, USA
Epilepsy Res 53:151-62. 2003..A net result of these processes may be to enable the brain more readily to dispose of the glutamate that is released from neurons during convulsive activity... - The ketogenic diet and brain metabolism of amino acids: relationship to the anticonvulsant effectMarc Yudkoff
Children s Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
Annu Rev Nutr 27:415-30. 2007..The ketogenic diet also may facilitate mechanisms by which the brain exports to blood compounds such as glutamine and alanine, in the process favoring the removal of glutamate carbon and nitrogen... - Mental Retardation Research Center: Children's Hospital of Philadelphia & University of PennsylvaniaMarc Yudkoff
Children's Hospital of Philadelphia, 1 Children's Center, Philadelphia, PA 19104 4318, USA
Int J Dev Neurosci 20:439. 2002 - Ketosis and brain handling of glutamate, glutamine, and GABAMarc Yudkoff
Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Epilepsia 49:73-5. 2008..This allows for: (a) more efficient removal of glutamate, the most important excitatory neurotransmitter; and (b) more efficient conversion of glutamine to GABA, the major inhibitory neurotransmitter... - Acidosis and astrocyte amino acid metabolismM Yudkoff
Children s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, 19104 4318, USA
Neurochem Int 36:329-39. 2000..The data point to the interplay of the metabolism of glucose and that of glutamate in these cells... - Brain amino acid requirements and toxicity: the example of leucineMarc Yudkoff
Children s Hospital of Philadelphia, Division of Child Development, Rehabilitation and Metabolic Disease, Department of Pediatrics, University of Pennsylvania School of Medicine, 19104, USA
J Nutr 135:1531S-8S. 2005..The result is a compromise of energy metabolism because of a failure of the malate-aspartate shuttle and a diminished rate of protein synthesis... - Brain amino acid metabolism and ketosisM Yudkoff
Division of Child Development and Rehabilitation, Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
J Neurosci Res 66:272-81. 2001..e., ketone bodies, were precursor to aspartate, glutamate, glutamine and GABA... - Ketogenic diet, amino acid metabolism, and seizure controlM Yudkoff
Division of Child Development and Rehabilitation, Children s Hospital of Philadelphia, 34th St and Civic Center Blvd, Philadelphia, PA 19104, USA
J Neurosci Res 66:931-40. 2001..We consider mechanisms by which such changes might lead to the antiepileptic effect... - Evaluation of formulas for calculating total energy requirements of preadolescent children with cystic fibrosisJillian Trabulsi
Divisions of Gastroenterology, Hepatology, and Nutrition, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
Am J Clin Nutr 85:144-51. 2007..Care providers use one of several empirically derived formulas to calculate energy requirements, yet the validity of these formulas has seldom been tested... - In vivo nitrogen metabolism in ornithine transcarbamylase deficiencyM Yudkoff
Division of Child Development, Children s Hospital of Philadelphia, Pennsylvania 19104, USA
J Clin Invest 98:2167-73. 1996..g., liver transplantation and gene therapy... 
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometryCan Ficicioglu
Department of Pediatrics, Section of Biochemical Genetics, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
J Pediatr 156:492-4. 2010..We report a patient who died as a result of severe brain injury due to hypoglycemia. Newborn screening was normal. Postmortem enzyme analysis and molecular testing confirmed the diagnosis of VLCADD...- Elimination of KATP channels in mouse islets results in elevated [U-13C]glucose metabolism, glutaminolysis, and pyruvate cycling but a decreased gamma-aminobutyric acid shuntChanghong Li
Division of Endocrinology, The Children s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
J Biol Chem 283:17238-49. 2008.... - Energy balance and the accuracy of reported energy intake in preadolescent children with cystic fibrosisJillian Trabulsi
Division of Gastroenterology, The Children s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Am J Clin Nutr 84:523-30. 2006..Suboptimal growth and nutritional status are common among children with cystic fibrosis (CF) and pancreatic insufficiency (PI). A better understanding of energy balance is required to improve prevention and treatment of malnutrition... - Botulinum toxin type a injections to salivary glands: combination with single event multilevel chemoneurolysis in 2 children with severe spastic quadriplegic cerebral palsyHeakyung Kim
Department of Physical Medicine and Rehabilitation, University of Pennsylvania, School of Medicine, Philadelphia, PA, USA
Arch Phys Med Rehabil 87:141-4. 2006.... - Role of the glutamate dehydrogenase reaction in furnishing aspartate nitrogen for urea synthesis: studies in perfused rat liver with 15NItzhak Nissim
Division of Child Development and Rehabilitation Medicine, Department of Pediatrics, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Biochem J 376:179-88. 2003..In addition, the current findings suggest that the formation of aspartate via the mitochondrial aspartate aminotransferase reaction may play an important role in the synthesis of cytosolic argininosuccinate... - Regulation of urea synthesis by agmatine in the perfused liver: studies with 15NItzhak Nissim
Children's Hospital of Philadelphia and Division of Child Development and Rehabilitation, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Am J Physiol Endocrinol Metab 283:E1123-34. 2002..These data suggest a possible therapeutic strategy encompassing the use of agmatine for the treatment of disturbed ureagenesis, whether secondary to inborn errors of metabolism or to liver disease... - Effects of a GTP-insensitive mutation of glutamate dehydrogenase on insulin secretion in transgenic miceChanghong Li
Division of Endocrinology, The Children's Hospital of Philadelphia and Diabetes Center, Philadelphia, Pennsylvania 19104, USA
J Biol Chem 281:15064-72. 2006..This study suggests that GDH functions predominantly in the direction of glutamate oxidation rather than glutamate synthesis in mouse islets and that this flux is tightly controlled by glucose... - Cross-sectional multicenter study of patients with urea cycle disorders in the United StatesMendel 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... - Myc regulates a transcriptional program that stimulates mitochondrial glutaminolysis and leads to glutamine addictionDavid R Wise
Department of Cancer Biology, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104 6160, USA
Proc Natl Acad Sci U S A 105:18782-7. 2008..These data suggest that oncogenic levels of Myc induce a transcriptional program that promotes glutaminolysis and triggers cellular addiction to glutamine as a bioenergetic substrate... - Dynamic regulation of metabolism and respiration by endogenously produced nitric oxide protects against oxidative stressE Paxinou
Stokes Research Institute, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA
Proc Natl Acad Sci U S A 98:11575-80. 2001.... - Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegansM J Falk
Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, USA
Mol Genet Metab 93:388-97. 2008..Such knowledge may enable the development of a metabolomic profiling diagnostic tool applicable to human mitochondrial disease... - Beyond aerobic glycolysis: transformed cells can engage in glutamine metabolism that exceeds the requirement for protein and nucleotide synthesisRalph J DeBerardinis
Department of Cancer Biology, Abramson Cancer Center, University of Pennsylvania, Room 450, BRB II III, 421 Curie Boulevard, Philadelphia, PA 19104 6160, USA
Proc Natl Acad Sci U S A 104:19345-50. 2007..Rather, glutamine metabolism provides a carbon source that facilitates the cell's ability to use glucose-derived carbon and TCA cycle intermediates as biosynthetic precursors... - Regulation of leucine-stimulated insulin secretion and glutamine metabolism in isolated rat isletsChanghong Li
Division of Endocrinology, Children's Hospital of Philadelphia, Pennsylvania 19104, USA
J Biol Chem 278:2853-8. 2003..These mechanisms provide an explanation for hypoglycemia caused by mutations of GDH in children... - A signaling role of glutamine in insulin secretionChanghong Li
Division of Endocrinology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
J Biol Chem 279:13393-401. 2004.... - The sparse fur mouse as a model for gene therapy in ornithine carbamoyltransferase deficiencyM L Batshaw
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia 19104, USA
Gene Ther 2:743-9. 1995..These clearly definable metabolic and behavioral abnormalities suggest that the spf/Y mouse should prove a useful model for studying the efficacy of gene therapy in OCTD... - A pilot study of in vivo liver-directed gene transfer with an adenoviral vector in partial ornithine transcarbamylase deficiencySteven E Raper
Institute for Human Gene Therapy and Department of Surgery, University of Pennsylvania, Philadelphia, PA 19104, USA
Hum Gene Ther 13:163-75. 2002..The low levels of gene transfer detected in this trial suggest that at the doses tested, significant metabolic correction did not occur... - Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseasesMatthew A Deardorff
Division of Metabolic Diseases, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
Mol Genet Metab 94:498-502. 2008.... - 3-isobutylmethylxanthine inhibits hepatic urea synthesis: protection by agmatineItzhak Nissim
Children s Hospital of Philadelphia, Division of Child Development, Department of Pediatrics, University of Pennsylvania School of Medicine, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
J Biol Chem 283:15063-71. 2008..Together, the data may suggest a new experimental application of IBMX in studies of CPS-I malfunction and the use of agmatine as intervention therapy... - The role of mitochondrially bound arginase in the regulation of urea synthesis: studies with [U-15N4]arginine, isolated mitochondria, and perfused rat liverItzhak Nissim
Children s Hospital of Philadelphia, Division of Child Development and Rehabilitation Medicine, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
J Biol Chem 280:17715-24. 2005.... - N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkersMendel 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... - 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiencyA 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... - 1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentationsAndrea L Gropman
Department of Neurology, Children s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA
Mol Genet Metab 94:52-60. 2008..The concentration of mI seen on (1)H MRS in PWM and FWM in this family could be used to deduce clinical symptomatology and may serve as a non-invasive marker of brain liability in OTCD... - Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamateLjubica 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...
Research Grants
- KETOGENIC DIET AND BRAIN AMINO ACID METABOLISMMarc Yudkoff; Fiscal Year: 2002....
- Mental Retardation and Development Disabilities ResearchMarc Yudkoff; Fiscal Year: 2007..The Center includes more than 60 Penn faculty members representing 15 departments at the School of Medicine, School of Veterinary Medicine, The School of Nursing, the Wistar Institute, and the College of Arts and Sciences. ..