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Annual Symposium of the Society for the Study of Inborn Errors of Metabolism Istanbul, Turkey, 31 August– 3 September 2010

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Annual Symposium of the Society for the Study of Inborn Errors of Metabolism Istanbul, Turkey, 31 August– 3 September 2010 J Inherit Metab Dis (2010) 33 (Suppl 1):S1–S197 DOI 10.1007/s10545-010-9163-x ABSTRACTS Annual Symposium of the Society for the Study of Inborn Errors of Metabolism Istanbul, Turkey, 31 August– 3 September 2010 Contents 01. Amino Acids 012-P Mutations in fumarylacetoacetate hydrolase gene and genotype-phenotype relation 001-P Sulphite oxidase deficiency in three Malaysian patients: clinical, RK Ozgul, A Guzel, L Mesci, HS Sivri, M Kilic, F Ozcay, biochemical and molecular findings M Gunduz, HI Aydin, D Aliefendioglu, T Coskun, BC Chen, B Shanti, GS Chng, MD Norsiah, G Vigneswari, A Dursun S22 WT Keng, LH Ngu S20 013-P Mutation profile of BCKDHA, BCKDHB AND DBT genes for 002-P Acute tyrosine administration inhibited mitochondrial energy maple syrup urine disease in Turkey metabolism in cerebral cortex and liver of young rats RK Ozgul, A Guzel, H Dundar, D Yucel, A Yilmaz, O Unal, EL Streck, G Scaini, GK Ferreira, N Rochi, J Benedet, A Tokatli, HS Sivri, T Coskun, A Dursun S23 GC Ferreira, PF Schuck S20 014-A Molybdenum cofactor deficiency in Tunisian patients 003-P In vitro effect of tyrosine on energy metabolism parameters in MB Hammami, F Nasrallah, S Hadj Taieb, S Omar, H Sanheji, cerebral cortex and liver of young rats N Tebib, MF Ben Dridi, M Feki, N Kaabachi S23 GK Ferreira, G Scaini, GC Ferreira, PF Schuck, EL Streck S20 015-P Nonketotic hyperglycinemia in Tunisia: about 34 patients 004-P A rapid, sensitive gas chromatography—mass spectrometry S Hadj Taieb, F Nasrallah, MB Hammami, M Romdhane, method for quantitation of leukocyte cystine M Elasmi, H Sanheji, S Omar, M Feki, N Kaabachi S23 GF van der Watt, B Bahar, F Omar, B Bergstedt S20 016-P Profile of inherited disorders of aminoacids metabolism other than 005-O Fatal cerebral edema associated with serine deficiency in CSF phenylketonuria in Tunisia IMLW Keularts, PLJM Leroy, ME Rubio-Gozalbo, LJM Spaapen, S Hadj Taieb, M Romdhane, F Nasrallah, MB Hammami, J Weber, L Dorland, TJ de Koning, NM Verhoeven-Duif S21 M Elasmi, N Tebib, S Omar, H Sanheji, MF Ben Dridi, M Feki, N Kaabachi S23 006-P Coexistence of molybdenum cofactor deficiency and pyloric stenosis 017-P Familial hyperlysinaemia with progressive spastic MGiżewska, H Romanowska, JO Sass, M Walter, quadriplegia—hyperlysinaemia type 2 J Sykut-Cegielska, G Hnatyszyn, E Krzywińska-Zdeb, K Tuschl, PB Mills, PT Clayton S24 E Gawrych, A Walecka, M Tuziak S21 018-P Management of type I tyrosinemia: a Tunisian experience 007-P In vivo intracerebroventricular administration of ornithine and H Azzouz, A Ben Chehida, M Ben Romdhane, H Ben Turkia, homocitrulline inhibits mitochondrial energy production and R Ben Abdelaziz, F Nasrallah, N Chouchene, K Monastiri, induce oxidative stress in cerebral cortex of young rats N Tebib, N Kaabachi, MS Abdelmoula, MF Ben Dridi S24 CM Viegas, EN Busanello, GC Ferreira, AP Moura, AM Tonin, 019-P Attention deficit in the patients with tyrosinemia type 1 M Grings, L Ritter, PF Schuck, ATS Wyse, M Wajner S21 M Pohorecka, A Jakubowska-Winecka, M Biernacka, M Biernacki, 008-P Intrastriatal administration of lysine induces oxidative and K Kusmierska, A Kowalik, T Wolanczyk, J Sykut-Cegielska S24 bioenergetics damage in striatum of developing rats 020-P Intermittent choreoathetosis in a 9-year-old boy with late onset B Seminotti, CG Fernandes, AU Amaral, A Zanatta, G Leipnitz, NKH caused by a novel homozygous missense mutation in the CS Dutra Filho, M Wajner S21 GLDC gene 009-P Neurochemical evidence that the major metabolites accumulating C Brunel-Guitton, B Casey, D Hewes, H Vallance, in maple syrup urine disease disturb mitochondrial bioenergetic in S Stockler-Ipsiroglu, S Mercimek-Mahmutoglu S24 brain of young rats 021-P Experience with an LC-MS/MS method for analysis of branched AU Amaral, G Leipnitz, CG Fernandes, B Seminotti, PF Schuck, chain amino acids in dried blood spots A Zanatta, P Eichler, C Cecatto, CS Dutra Filho, M Wajner S22 A Alodaib, V Wiley, K Sim, K Carpenter, B Wilcken S25 010-P Na+,K+-ATPase activity and gene expression in rats subjected to 022-P Pulmonary hypertension associated with inborn errors of metabolism: experimental hyperprolinemia report of 7 cases AGK Ferreira, FM Stefanello, AA Cunha, MJ da Cunha, TCB Pereira, M Del Toro, A Arranz, E Riudor, A Moreno, A Ribes, P Briones, CD Bonan, MR Bogo, CA Netto, M Wajner, ATS Wyse S22 T Armengué, M Roig S25 011-P Follow up of patients treated for tyrosinemia type I: blood spot 024-P Improving patient experience in cystinuria: can serial urine profiles analysis of nitisinone and succinylacetone replace timed urine collections in the follow-up of patients with J Sander, N Janzen, M Peter, G Gokcay, M Demirkol, cystinuria? IOzer,AMDas S22 B Lopez, C Tomson, M De Hora, H Kemp S25 S2 J Inherit Metab Dis (2010) 33 (Suppl 1):S1–S197 025-P A novel rapid UPLC/MSMS method for the quantitation of cystine 042-P Diagnostic relevance of phenylalanine/tyrosine ratios (PHE/TYR) in urine S Scholl-Burgi, D Fuchs, E Haberlandt, K Rostásy, B Lopez, M DeHora, M Williams, H Kemp S26 D Karall S31 026-P Cerebral accumulation of 3-hydroxyisovaleric acid in adults until 043-O Successful treatment of molybdenum cofactor deficiency type A recently unaware of having 3-methylcrotonyl-coa carboxylase with cyclic pyranopterin monophosphate (cPMP) in five patients (MCC) deficiency A Veldman, B Schwahn, P Galloway, F van Spronsen, K Bergman, M van der Graaf, UFH Engelke, E Morava, MCH Janssen, MC de Vries, I Weis, T Nuesslein, R Gianello, JO Sass, AA Beleidi, LAJ Kluijtmans, B Góraj, A Heerschap RA Wevers S26 JA Santamaria-Araujo, G Schwarz S31 027-O Pyrroline-5-carboxylate (P5C) synthase deficiency: novel clinical 044-P Ketogenic diet in nonketotic hyperglycinemia and biochemical insights V Bzduch, D Behulova, M Kolnikova, J Payerova, D Martinelli, J Haeberle, S Colafati, C Giunta, I Hausser, K Fabriciova S31 BM Goffredo, R Carrozzo, MC Meschini, E Bevivino, S Boenzi, 045-P Reversible cause of myopathy in a case of lysinuric protein intolerance M Baumgartner, C Dionisi-Vici S26 M Wood, S Harmar, M McSweeney, L Abulhoul S31 028-P Tyrosinemia type 1- effect of metabolites on five different 046-P Sample stability and reproducibility of white cell cystine DNA- repair enzymes measurement in cystinosis YT Bliksrud, A Ellingsen, M Bjørås S26 C Turner, RN Dalton S32 029-P Hereditary tyrosinaemia type I: data of a Spanish registry 047-P Nationwide survey of extended newborn screening by tandem mass M Del Toro, ML Couce, L Aldamiz, J Dalmau, F Sánchez, spectrometry in Taiwan G Pintos, J Manzanares, M Bueno, D Gil, M Gil, L Gomez, E Lopez, C Chiang, H Ho, S Kao, D Niu, Y Chien, W Hwu, S Chiang, VNavas S27 C Kao, T Liu, H Chiang, K Hsiao S32 030-P Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 048-P Deficiency of molybdenum cofactor biosynthesis due to a novel deficiency in patients with cutis laxa and mental retardation mutation in the MOCS2 genes in a child with short stature R Kretz, A Kariminejad, M Rohrbach, D Bartholdi, B Bozorgmehr, JA Arranz, G Pintos, L Montlleó, M Gutiérrez, P Fernández, M Baumgartner, I Hausser, C Giunta, J Häberle S27 A Outeiral, E Riudor S32 031-P Maple syrup urine disease (MSUD) in Brazil: a cross-sectional 049-O Metabolic correction and long-term rescue of murine intermediate study of 41 patients maple syrup urine disease (iMSUD) using human amniotic S Herber, C Bittar, CBO Netto, ML De Barba, I Schwartz, epithelial cell transplantation (hAEC-Tx) R Giugliani, CFM Souza S27 KJ Skvorak, K Dorko, M Hansel, F Marongiu, V Tahan, 032-P New method to measure cystine in granulocytes using liquid T Bottiglieri, Q Sun, KM Gibson, SC Strom S32 chromatograhy-tandem mass spectrometry 050-P Rapid analysis of cystine for the diagnosis of renal calculi J García-Villoria, JM Hernández, A Arias, A Ribes S28 JP Veyssier, T Tanyalcin S33 033-O Glutamine synthetase deficiency in a 3 year old with severe neurological disease 02. Homocysteine J Häberle, P Paesold, S Kolker, G Hoffman, N Shahbeck, T Ben-Omran S28 051-P Siblings with methionine adenosyltransferase (MAT) I/III deficiency, presenting elevation of plasma total homocysteine and transient MRI 034-P Chronic form of tyrosinemia type 1 presented with rickets signs abnormalities in white matter lesions G Dikme, E Soyucen, G Zorer, N Canpolat, A Aydin, S Yamamoto, A Ogawa, E Ogawa S33 B Tuysuz S28 052-P Trimethylaminuria (TMAU) in a patient with homocystinuria on 035-O D-amino acids as diagnostic markers for inborn errors of betaine therapy—detection of a homozygous allelic variant in the metabolism FMO3 gene and subsequent beneficial effect of riboflavin WF Visser, Klomp LWJ, M Albersen, NM Verhoeven-Duif, NJ Manning, EJ Smith, MJ Sharrard, KE Allen, RJ Kirk S33 TJ de Koning S28 053-P End-stage renal failure in a young adult: an unusual presentation of 036-P Expanded newborn screening in the NICU population late-onset cobalamin C disease F Porta, S Tortorelli, D Gavrilov, D Oglesbee, K Raymond, I Kern, L Bonafé, V Bourquin, E Girardin, O Boulat, D Matern, P Rinaldo S29 MR Baumgartner, B Fowler, K Hadaya S33 037-P Successful treatment of two neonates with molybdenum cofactor 054-P Identification and functional characterization of a novel mutation in deficiency (MOCD) type A, using cyclic pyranopterine CBS gene monophosphate (CPMP) M Mendes, GS Salomons, I Tavares de Almeida, H Blom, I Rivera, BC Schwahn, PG Galloway, S Bowhay, A Veldman, JA Santamaria, P Leandr S34 G Schwarz S29 055-P Acute hyperhomocysteinemia alters platelets count and blood 038-P Amino acid analysis in dried
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