User menu

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Bibliographic reference Kölker, Stefan ; Garcia-Cazorla, Angeles ; Cazorla, Angeles Garcia ; Valayannopoulos, Vassili ; Lund, Allan M ; et. al. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.. In: Journal of Inherited Metabolic Disease, Vol. 38, p. 1041-1057 (2015)
Permanent URL http://hdl.handle.net/2078.1/189502
  1. Ah Mew Nicholas, Krivitzky Lauren, McCarter Robert, Batshaw Mark, Tuchman Mendel, Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ, 10.1016/j.jpeds.2012.06.065
  2. Batshaw Mark L., Tuchman Mendel, Summar Marshall, Seminara Jennifer, A longitudinal study of urea cycle disorders, 10.1016/j.ymgme.2014.08.001
  3. Baumgartner Matthias R, Hörster Friederike, Dionisi-Vici Carlo, Haliloglu Goknur, Karall Daniela, Chapman Kimberly A, Huemer Martina, Hochuli Michel, Assoun Murielle, Ballhausen Diana, Burlina Alberto, Fowler Brian, Grünert Sarah C, Grünewald Stephanie, Honzik Tomas, Merinero Begoña, Pérez-Cerdá Celia, Scholl-Bürgi Sabine, Skovby Flemming, Wijburg Frits, MacDonald Anita, Martinelli Diego, Sass Jörn Oliver, Valayannopoulos Vassili, Chakrapani Anupam, Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia, 10.1186/s13023-014-0130-8
  4. Boy Nikolas, Haege Gisela, Heringer Jana, Assmann Birgit, Mühlhausen Chris, Ensenauer Regina, Maier Esther M., Lücke Thomas, Hoffmann Georg F., Müller Edith, Burgard Peter, Kölker Stefan, Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters, 10.1007/s10545-012-9517-7
  5. Burgard Peter, Rupp Kathrin, Lindner Martin, Haege Gisela, Rigter Tessel, Weinreich Stephanie S., Loeber J. Gerard, Taruscio Domenica, Vittozzi Luciano, Cornel Martina C., Hoffmann Georg F., Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow-up and quality assurance, 10.1007/s10545-012-9484-z
  6. Chandler R. J., Zerfas P. M., Shanske S., Sloan J., Hoffmann V., DiMauro S., Venditti C. P., Mitochondrial dysfunction in mut methylmalonic acidemia, 10.1096/fj.08-121848
  7. Chapman Kimberly A., Gropman Andrea, MacLeod Erin, Stagni Kathy, Summar Marshall L., Ueda Keiko, Mew Nicholas Ah, Franks Jill, Island Eddie, Matern Dietrich, Pena Loren, Smith Brittany, Sutton V. Reid, Urv Tiina, Venditti Charles, Chakrapani Anupam, Acute management of propionic acidemia, 10.1016/j.ymgme.2011.09.026
  8. Cole TJ (1990) The LMS method for constructing normalized growth standards. Eur J Clin Nutr 44:45–60
  9. Cole T. J., Freeman J. V., Preece M. A., British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood, 10.1002/(sici)1097-0258(19980228)17:4<407::aid-sim742>3.0.co;2-l
  10. Cole Tim J., Williams Anthony F., Wright Charlotte M., Revised birth centiles for weight, length and head circumference in the UK-WHO growth charts, 10.3109/03014460.2011.544139
  11. DeBrosse Suzanne D., Okajima Kazuki, Zhang Shulin, Nakouzi Ghunwa, Schmotzer Christine L., Lusk-Kopp Marilyn, Frohnapfel Mary Beth, Grahame George, Kerr Douglas S., Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype, 10.1016/j.ymgme.2012.09.001
  12. de Keyzer Yves, Valayannopoulos Vassili, Benoist Jean-François, Batteux Frédéric, Lacaille Florence, Hubert Laurence, Chrétien Dominique, Chadefeaux-Vekemans Bernadette, Niaudet Patrick, Touati Guy, Munnich Arnold, de Lonlay Pascale, Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria, 10.1203/pdr.0b013e3181a7c270
  13. Dionisi-Vici Carlo, Deodato Federica, Röschinger Wulf, Rhead William, Wilcken Bridget, ‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry, 10.1007/s10545-006-0278-z
  14. Engelhardt Britta, Liebner Stefan, Novel insights into the development and maintenance of the blood–brain barrier, 10.1007/s00441-014-1811-2
  15. Enns Gregory M., Berry Susan A., Berry Gerard T., Rhead William J., Brusilow Saul W., Hamosh Ada, Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders, 10.1056/nejmoa066596
  16. Gabbe Steven G., Landon Mark B., Warren-Boulton Elizabeth, Fradkin Judith, Promoting Health After Gestational Diabetes : A National Diabetes Education Program Call to Action, 10.1097/aog.0b013e3182393208
  17. Gallagher Renata C., Lam Christina, Wong Derek, Cederbaum Stephen, Sokol Ronald J., Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency, 10.1016/j.jpeds.2013.12.024
  18. Grünert Sarah C, Wendel Udo, Lindner Martin, Leichsenring Michael, Schwab K Otfried, Vockley Jerry, Lehnert Willy, Ensenauer Regina, Clinical and neurocognitive outcome in symptomatic isovaleric acidemia, 10.1186/1750-1172-7-9
  19. Grünert Sarah C, Müllerleile Stephanie, De Silva Linda, Barth Michael, Walter Melanie, Walter Kerstin, Meissner Thomas, Lindner Martin, Ensenauer Regina, Santer René, Bodamer Olaf A, Baumgartner Matthias R, Brunner-Krainz Michaela, Karall Daniela, Haase Claudia, Knerr Ina, Marquardt Thorsten, Hennermann Julia B, Steinfeld Robert, Beblo Skadi, Koch Hans-Georg, Konstantopoulou Vassiliki, Scholl-Bürgi Sabine, van Teeffelen-Heithoff Agnes, Suormala Terttu, Sperl Wolfgang, Kraus Jan P, Superti-Furga Andrea, Schwab Karl Otfried, Sass Jörn Oliver, Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients, 10.1186/1750-1172-8-6
  20. Gutiérrez Junquera Carolina, Balmaseda Elena, Gil Esther, Martínez Andrés, Sorli Moisés, Cuartero Isabel, Merinero Begoña, Ugarte Magdalena, Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency, 10.1007/s00431-008-0696-z
  21. Häberle Johannes, Boddaert Nathalie, Burlina Alberto, Chakrapani Anupam, Dixon Marjorie, Huemer Martina, Karall Daniela, Martinelli Diego, Crespo Pablo, Santer René, Servais Aude, Valayannopoulos Vassili, Lindner Martin, Rubio Vicente, Dionisi-Vici Carlo, Suggested guidelines for the diagnosis and management of urea cycle disorders, 10.1186/1750-1172-7-32
  22. Harting Inga, Neumaier-Probst Eva, Seitz Angelika, Maier Esther M., Assmann Birgit, Baric Ivo, Troncoso Monica, Mühlhausen Chris, Zschocke Johannes, Boy Nikolas P. S., Hoffmann Georg F., Garbade Sven F., Kölker Stefan, Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I, 10.1093/brain/awp112
  23. Heringer Jana, Boy S. P. Nikolas, Ensenauer Regina, Assmann Birgit, Zschocke Johannes, Harting Inga, Lücke Thomas, Maier Esther M., Mühlhausen Chris, Haege Gisela, Hoffmann Georg F., Burgard Peter, Kölker Stefan, Use of guidelines improves the neurological outcome in glutaric aciduria type I, 10.1002/ana.22095
  24. Hoffmann G., Athanassopoulos S., Burlina A., Duran M., Klerk J., Lehnert W., Leonard J., Monavari A., Müller E., Muntau A., Naughten E., Plecko-Starting B., Superti-Furga A., Zschocke J., Christensen E., Clinical Course, Early Diagnosis, Treatment, and Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency, 10.1055/s-2007-973761
  25. Hörster F., Garbade S. F., Zwickler T., Aydin H. I., Bodamer O. A., Burlina A. B., Das A. M., De Klerk J. B. C., Dionisi-Vici C., Geb S., Gökcay G., Guffon N., Maier E. M., Morava E., Walter J. H., Schwahn B., Wijburg F. A., Lindner M., Grünewald S., Baumgartner M. R., Kölker S., Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters, 10.1007/s10545-009-1189-6
  26. Kido Jun, Nakamura Kimitoshi, Mitsubuchi Hiroshi, Ohura Toshihiro, Takayanagi Masaki, Matsuo Masafumi, Yoshino Makoto, Shigematsu Yosuke, Yorifuji Tohru, Kasahara Mureo, Horikawa Reiko, Endo Fumio, Long-term outcome and intervention of urea cycle disorders in Japan, 10.1007/s10545-011-9427-0
  27. Kölker Stefan, Köhr Georg, Ahlemeyer Barbara, Okun Jürgen G, Pawlak Verena, Hörster Friederike, Mayatepek Ertan, Krieglstein Josef, Hoffmann Georg F, Ca2+ and Na+ Dependence of 3-Hydroxyglutarate-Induced Excitotoxicity in Primary Neuronal Cultures from Chick Embryo Telencephalons, 10.1203/00006450-200208000-00011
  28. Kölker Stefan, Garbade Sven F, Greenberg Cheryl R, Leonard James V, Saudubray Jean-Marie, Ribes Antonia, Kalkanoglu H Serap, Lund Allan M, Merinero Begoña, Wajner Moacir, Troncoso Mónica, Williams Monique, Walter John H, Campistol Jaume, MartÍ-Herrero Milagros, Caswill Melissa, Burlina Alberto B, Lagler Florian, Maier Esther M, Schwahn Bernd, Tokatli Aysegul, Dursun Ali, Coskun Turgay, Chalmers Ronald A, Koeller David M, Zschocke Johannes, Christensen Ernst, Burgard Peter, Hoffmann Georg F, Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency, 10.1203/01.pdr.0000219387.79887.86
  29. Kölker Stefan, Garbade Sven F, Boy Nikolas, Maier Esther M, Meissner Thomas, Mühlhausen Chris, Hennermann Julia B, Lücke Thomas, Häberle Johannes, Baumkötter Jochen, Haller Wolfram, Müller Edith, Zschocke Johannes, Burgard Peter, Hoffmann Georg F, Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany, 10.1203/pdr.0b013e318137a124
  30. Kölker Stefan, Christensen Ernst, Leonard James V., Greenberg Cheryl R., Boneh Avihu, Burlina Alberto B., Burlina Alessandro P., Dixon Marjorie, Duran Marinus, García Cazorla Angels, Goodman Stephen I., Koeller David M., Kyllerman Mårten, Mühlhausen Chris, Müller Edith, Okun Jürgen G., Wilcken Bridget, Hoffmann Georg F., Burgard Peter, Diagnosis and management of glutaric aciduria type I – revised recommendations, 10.1007/s10545-011-9289-5
  31. Kölker Stefan, Burgard Peter, Sauer Sven W., Okun Jürgen G., Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation, 10.1007/s10545-013-9600-8
  32. Kölker S, Dobbelaere D, Häberle J et al (2015) Networking across borders for individuals with organic acidurias and urea cycle disorders: the E-IMD consortium. J Inherit Metab Dis in press
  33. Lamp Jessica, Keyser Britta, Koeller David M., Ullrich Kurt, Braulke Thomas, Mühlhausen Chris, Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells, 10.1074/jbc.m111.232744
  34. Leonard James V., Vijayaraghavan Suresh, Walter John H., The impact of screening for propionic and methylmalonic acidaemia, 10.1007/s00431-003-1345-1
  35. Liu Jihong, Gallagher Alexa E., Carta Courtney M., Torres Myriam E., Moran Robert, Wilcox Sara, Racial differences in gestational weight gain and pregnancy-related hypertension, 10.1016/j.annepidem.2014.02.009
  36. Loeber J. Gerard, Burgard Peter, Cornel Martina C., Rigter Tessel, Weinreich Stephanie S., Rupp Kathrin, Hoffmann Georg F., Vittozzi Luciano, Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result, 10.1007/s10545-012-9483-0
  37. MCCLELLAND VERITY M, BAKALINOVA DANIELA B, HENDRIKSZ CHRIS, SINGH RAVI P, Glutaric aciduria type 1 presenting with epilepsy, 10.1111/j.1469-8749.2008.03240.x
  38. Mustafa Ahlam, Clarke Joe T. R., Ornithine transcarbamoylase deficiency presenting with acute liver failure, 10.1007/s10545-006-0303-2
  39. Nassogne M. C., Héron B., Touati G., Rabier D., Saudubray J. M., Urea cycle defects: Management and outcome, 10.1007/s10545-005-0303-7
  40. Nettesheim S, Häberle J, Karall D et al (2013) Neu diagnostizierte Harnstoffzyklusdefekte bei Patienten unter 16 Jahren. Monatsschr Kinderheilkd 161(Suppl 2):166, abstract
  41. Okun JG, Hörster F, Farkas LM et al (2002) Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem 277:14674–14680
  42. Olsen Rikke K.J., Andresen Brage S., Christensen Ernst, Bross Peter, Skovby Flemming, Gregersen Niels, Clear relationship betweenETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency, 10.1002/humu.10226
  43. Pena Loren, Franks Jill, Chapman Kimberly A., Gropman Andrea, Ah Mew Nicholas, Chakrapani Anupam, Island Eddie, MacLeod Erin, Matern Dietrich, Smith Brittany, Stagni Kathy, Sutton V. Reid, Ueda Keiko, Urv Tiina, Venditti Charles, Enns Gregory M., Summar Marshall L., Natural history of propionic acidemia, 10.1016/j.ymgme.2011.09.022
  44. R Core Team (2014) R: A language and environment for statistical computing. R foundation for statistical computing. Vienna, Austria, http://CRAN.R-project.org/
  45. Richter SJ, McCann MH (2007) Multiple Comparison of Medians Using Permutation Tests. J Mod Appl Stat Methods 6:399–412
  46. Rüegger Corinne M., Lindner Martin, Ballhausen Diana, Baumgartner Matthias R., Beblo Skadi, Das Anibh, Gautschi Matthias, Glahn Esther M., Grünert Sarah C., Hennermann Julia, Hochuli Michel, Huemer Martina, Karall Daniela, Kölker Stefan, Lachmann Robin H., Lotz-Havla Amelie, Möslinger Dorothea, Nuoffer Jean-Marc, Plecko Barbara, Rutsch Frank, Santer René, Spiekerkoetter Ute, Staufner Christian, Stricker Tamar, Wijburg Frits A., Williams Monique, Burgard Peter, Häberle Johannes, Cross-sectional observational study of 208 patients with non-classical urea cycle disorders, 10.1007/s10545-013-9624-0
  47. Sachs L, Hedderich J (2012) Angewandte Statistik. Springer, Heidelberg
  48. Sauer Sven W., Okun Jürgen G., Schwab Marina A., Crnic Linda R., Hoffmann Georg F., Goodman Stephen I., Koeller David M., Kölker Stefan, Bioenergetics in Glutaryl-Coenzyme A Dehydrogenase Deficiency : A ROLE FOR GLUTARYL-COENZYME A, 10.1074/jbc.m502845200
  49. Sauer Sven W., Okun Jürgen G., Fricker Gert, Mahringer Anne, Müller Ines, Crnic Linda R., Mühlhausen Chris, Hoffmann Georg F., Hörster Friederike, Goodman Stephen I., Harding Cary O., Koeller David M., Kölker Stefan, Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency : Biochemical risk factors in GCDH deficiency, 10.1111/j.1471-4159.2006.03813.x
  50. Sauer Sven W., Opp Silvana, Mahringer Anne, Kamiński Marcin M., Thiel Christian, Okun Jürgen G., Fricker Gert, Morath Marina A., Kölker Stefan, Glutaric aciduria type I and methylmalonic aciduria: Simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood–brain barrier and the choroid plexus, 10.1016/j.bbadis.2010.03.003
  51. Schwab Marina A., Sauer Sven W., Okun Jürgen G., Nijtmans Leo G. J., Rodenburg Richard J. T., van den Heuvel Lambert P., Dröse Stefan, Brandt Ulrich, Hoffmann Georg F., Ter Laak Henk, Kölker Stefan, Smeitink Jan A. M., Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins, 10.1042/bj20060221
  52. Smucker Mark D., Allan James, Carterette Ben, A comparison of statistical significance tests for information retrieval evaluation, 10.1145/1321440.1321528
  53. Strauss Arnold W., Bennett Michael J., Rinaldo Piero, Sims Harold F., O'Brien Laurie K., Zhao Yiwen, Gibson Beverly, Ibdah Jamal, Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications, 10.1016/s0146-0005(99)80044-5
  54. Strauss Kevin A., Lazovic Jelena, Wintermark Max, Morton D. Holmes, Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency, 10.1093/brain/awm058
  55. Strauss Kevin A., Donnelly Patrick, Wintermark Max, Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency, 10.1093/brain/awp297
  56. Summar Marshall L, Dobbelaere Dries, Brusilow Saul, Lee Brendan, Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes, 10.1111/j.1651-2227.2008.00952.x
  57. Summar Marshall L., Koelker Stefan, Freedenberg Debra, Le Mons Cynthia, Haberle Johannes, Lee Hye-Seung, Kirmse Brian, The incidence of urea cycle disorders, 10.1016/j.ymgme.2013.07.008
  58. Sutton V. Reid, Chapman Kimberly A., Gropman Andrea L., MacLeod Erin, Stagni Kathy, Summar Marshall L., Ueda Keiko, Mew Nicholas Ah, Franks Jill, Island Eddie, Matern Dietrich, Peña Loren, Smith Brittany, Urv Tina, Venditti Charles, Chakarapani Anupam, Chronic management and health supervision of individuals with propionic acidemia, 10.1016/j.ymgme.2011.08.034
  59. Tavares Mariana Vide, Santos Maria João, Domingues Ana Patrícia, Pratas João, Mendes Cândida, Simões Marta, Moura Paulo, Diogo Luísa, Grazina Manuela, Antenatal manifestations of mitochondrial disorders, 10.1007/s10545-012-9567-x
  60. Teufel U, Weitz J, Flechtenmacher C et al (2011) High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure. Pediatr Transpl 15:E110–E115
  61. van der Meer S.B., Poggi F., Spada M., Bonnefont J.P., Ogier H., Hubert P., Depondt E., Rapoport D., Rabier D., Charpentier C., Parvy P., Bardet J., Kamoun P., Saudubray J.M., Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia, 10.1016/s0022-3476(05)82005-0
  62. Vockley Jerry, Ensenauer Regina, Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity, 10.1002/ajmg.c.30089
  63. Whitfield Jonathan, Hurst David, Bennett Michael, Sherwood W., Hogg Ronald, Gonsoulin Whitney, Fetal Polycystic Kidney Disease Associated with Glutaric Aciduria Type II: An Inborn Error of Energy Metabolism, 10.1055/s-2007-994309
  64. Zwickler Tamaris, Haege Gisela, Riderer Alina, Hörster Friederike, Hoffmann Georg F., Burgard Peter, Kölker Stefan, Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?, 10.1007/s10545-011-9426-1
  65. Zwickler Tamaris, Riderer Alina, Haege Gisela, Hoffmann Georg F., Kölker Stefan, Burgard Peter, Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia, 10.1007/s10545-013-9621-3