| AUGUST 30, 2010 - MONDAY |
| MERCK SERONO SATELLITE SYMPOSIUM |
| 18:30 - 20:30, HILTON OTEL-SADIRVAN HALL |
| PART I |
PKU current management |
| Chairs: Turgay Coşkun, Turkey |
| Fatih Ezgü, Turkey |
|
Neurocognitive outcomes in PKU patients |
| Francjan Van Spronsen,The Netherlands |
|
Dietary outcomes in PKU patients |
| Julio Rocha, Portugal |
| PART II |
New treatments in PKU |
| Chairs: Nenad Blau, Switzerland |
| Mübeccel Demirkol, Turkey |
|
Mechanism of action of new treatments |
| Nenad Blau, Switzerland |
|
Responsiveness assessments of new treatments |
| Ania Muntau, Germany |
|
Neurocognitive outcomes from new treatments |
| Desiree White, U.S.A. |
|
Dietary outcomes from new treatments |
| Rani Singh, U.S.A. |
|
Concluding remarks |
| 13:00-17:00 |
Genzyme Meeting
Hilton Otel - Venüs
|
| AUGUST 31, 2010 - TUESDAY |
| 07:30 – 09:00 |
REGISTRATION |
| 09:00 – 12:40 |
ERNDIM Meeting |
| 09:00 – 10:30 |
ERNDIM DPT WORKSHOPS
Levent I - II - III, Fatih II - V |
| 09:00 – 12:30 |
Nutrition and Dietary Treatment Workshop - Anadolu Auditorium
Chairs: Dorothea Moesslinger, Vienna, Austria
Marjorie Dixon, London, U.K |
| 09:00 – 09:30 |
Citrin Deficiency: The Latest Evidence and Dietary Treatments
David Dimmock, Milwaukee, Texas, U.S.A. |
| 09:30 – 10:00 |
Continuous Glucose Monitoring in GSD
Fiona White, Manchester, U.K. |
| 10:00 – 10:30 |
Dietary Management of GSD I
Kaustuv Bhattacharya, Westmead, Australia |
| 10:30 – 11:00 |
COFFEE BREAK
Rumeli Hall |
| 11:00 – 11:30 |
Breastfeeding Practices in IEM in Turkey
Mübeccel Demirkol, Istanbul, Turkey |
| 11:30 – 12:00 |
Overcoming Cultural Barriers in Managing IEM
Sylvia Stoeckler, Vancouver, Canada |
| 12:00 – 12:30 |
Secondary Creatine Deficiency in IMD
Carlo Dionisi-Vici, Rome, Italy |
| 11:00 – 12:40 |
ERNDIM MEETING |
| 11:00 – 11:10 |
Chairman's Update |
| Mick Henderson, Leeds, U.K. |
| 11:10 – 11:20 |
Common DPT Sample |
| Christine Vianey-Saban, Lyon, France |
| 11:20 – 11:50 |
Experience from the Acylcarnitine Scheme |
| Charles Turner, London, U.K. |
| 11:50 – 12:30 |
Mitochondrial Fatty Acid Oxidation Defects |
| Ron Wanders, Amsterdam, The Netherlands |
| 10:00 – 12:30 |
JIMD EDITORIAL BOARD MEETING
Sultan III |
| 12:30 –14:00 |
SSIEM COUNCIL AND CORRESPONDING MEMBERS MEETING - Anadolu Auditorium
A working lunch will be available. |
| 12:30 – 14:00 |
LUNCH
Rumeli Hall |
| 14:00 – 14:30 |
OPENING CEREMONY
Anadolu Auditorium |
| 14:30 – 16:00 |
PLENARY SESSION I - Anadolu Auditorium
Future of “Omics”
Chairs: Alberto Burlina, Padova, Italy
Georg Hoffmann, Heidelberg, Germany |
| 14:30 – 15:00 |
NMR an LC-Mass Spectrometry Based Metabolomics in Inborn
Errors of Metabolism
Ron Wevers, Nijmegen, The Netherlands |
| 15:00 – 15:30 |
Lipidomics
W. Griffiths, Swansea, U.K. |
| 15:30 – 16:00 |
New Developments in Genome Sequencing
Johan den Dunnen, Leiden, The Netherlands |
| 16:00 – 16:30 |
COFFEE BREAK
Rumeli Hall |
| 16:30 – 18:00 |
PLENARY SESSION II - Anadolu Auditorium
New era in phenylketonuria research
Chairs: Nicola Longo, Utah, U.S.A
Turgay Coşkun, Ankara, Turkey |
| 16:30 – 17:00 |
Genotypes and Phenotypes in PKU
Johannes Zschocke, Innsbruck, Austria |
| 17:00 – 17:30 |
New Treatment Options in PKU
Nenad Blau, Zurich, Switzerland |
| 17:30 – 18:00 |
PKU: A Misfolding Disorder
Ania Muntau, Munich, Germany |
| 18:30 – 20:00 |
WELCOME RECEPTION
Military Museum
|
| SEPTEMBER 1, 2010 - WEDNESDAY |
08:30 –10:30 |
PLENARY SESSION III
Anadolu Auditorium |
| Posttranslational Modification of Proteins |
| Chairs: Meral Topçu, Ankara, Turkey |
| Gert Matthijs, Leuven, Belgium |
08:30 – 09:00 |
Protein Glycosylation and Disease |
| Jaak Jaeken , Leuven, Belgium |
09:00 – 09:30 |
Protein Sulfation and Disease |
| Andrea Superti-Furga, Freiburg, Germany |
09:30 – 10:00 |
Protein Farnesylation and Disease |
| Giuseppe Novelli, Rome, Italy |
10:00 – 10:30 |
Protein Ubiquitination and Disease |
| Arnold Munnich, Paris, France |
| 09:00-10:30 |
SSIEM-Dietitians Group Meeting
Sultan III |
| |
Formation, aims and objectives of SSIEM-DG |
| |
Chair: Reinhild Link, Wiesbaden, Germany |
| |
New committee/its role, constitution and members
Report from SSIEM Council Member
Web site
IMD dietetic education across Europe (short summary)
Long term group aims for the new committee |
| |
Short original communications and exchange with SSIEM-DG |
| |
Chair: Marjorie Dixon, London, U.K. |
| |
Urea cycle disorders: dietary treatment in the UK |
| |
Sarah Adams, Glasgow, U.K. |
| |
Body composition and markers of metabolic syndrome in adults with PKU |
| |
Julio Rocha, Porto, Portugal |
| |
The dietary management of children and adults with HCU across Europe and beyond (Summary of questionnaire) |
| |
Anita MacDonald, Birmingham, U.K. |
| |
Extended neonatal screening for metabolic diseases: need for supplementary dietary guidelines |
| |
Margreet van Rijn, Groningen, Holland |
| 10:30 - 11:00 |
COFFEE BREAK
Rumeli Hall |
| 11:00–12:30 |
PARALLEL SESSION I
Anadolu Auditorium |
| Lysosomal Disorders A |
| Chairs: Fatih Süheyl Ezgü, Ankara, Turkey |
| Guy Besley, Manchester, U.K. |
| 11:00 – 11:15 |
395-O |
The application of multiplexed, multi-dimensional ultra high pressure liquid chromatography/ tandem mass spectrometry to the high throughput screening of lysosomal storage disorders in newborn dried bloodspots
D. Kasper, U.S.A. |
| 11:15 – 11:30 |
413-O |
| Cardiac manifestations in patients with mucopolysaccharidosis I |
| R. Parini, Italy |
| 11:30 – 11:45 |
458-O |
A phase 1/2, multicenter, open-label, dose-escalation study to evaluate the safety, tolerability, and efficacy of bmn 110 in subjects with mucopolysaccharidosis IVA (Morquio syndrome)
S. Jones, U.K. |
| 11:45 – 12:00 |
469-O |
| Morbidity and mortality following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI |
| T. Pederson, U.S.A. |
| 12:00 – 12:15 |
477-O |
| Cognitive outcome in 14 MPS II patients treated with idursulfase |
| V. Valayannopoulos, France |
12:15 – 12:30 |
495-O |
| Long term cardiac effects of Naglazyme® (Galsulfase) therapy(nrx) in MPS VI patients |
| P. Harmatz, U.S.A. |
| 11:00–12:30 |
PARALLEL SESSION II
Marmara Hall |
| Organic Acid Disorders |
| Chairs: James Leonard, Oxford, U.K. |
| Jim Bonham, Sheffield, U.K. |
| 11:00 – 11:15 |
069-O |
| 3-methylglutaconic aciduria type i redefined, a syndrome with late onset leukoencephalopathy |
| S.B. Wortmann , The Netherlands |
| 11:15 – 11:30 |
078-O |
| Potential pharmacological chaperone therapy for isolated methylmalonic aciduria Cblb type |
| A. Jorge-Finnigan, Spain |
| 11:30 – 11:45 |
082-O |
| Feasibility of aminoglycoside mediated suppression of nonsense mutations as a novel therapeutical approach in propionic acidemia |
| R. Sánchez-Alcudia, Spain |
| 11:45 – 12:00 |
111-O |
| Newborn screening (nbs) for disorders of propionate, methionine and cobalamin metabolism using second tier testing |
| D. Gavrilov, U.S.A. |
| 12:00 – 12:15 |
119-O |
| Mutation analysis and metabolomics characterize a new variant of isovaleric academia |
| M. Dercksen, South Africa |
| 12:15 – 12:30 |
123-O |
| D-glyceric aciduria caused by genetic deficiency of D-glycerate kinase |
| J.O. Sass, Germany |
| 11:00–12:30 |
PARALLEL SESSION III
Topkapı Hall |
| Miscellaneous |
| Chairs:Philip Sedel (Paris, France) |
| Ronald Wanders, Amsterdam, The Netherlands |
| 11:00 – 11:15 |
287-O |
| New insights into quarternary structure of PEX26 point to potential alternative functions of this peroxin |
| A.S. Lotz, Germany |
| 11:15 – 11:30 |
292-O |
| Newborn screening for gamt deficiency: experience with guanidinoacetate by fia-ms/ms and uplc-ms/ms second tier testing |
| L. Sweetman, U.S.A. |
| 11:30 – 11:45 |
297-O |
| Treatment of intractable epilepsy in a female with x-linked cerebral creatine transporter (SLC6A8) deficiency |
| S. Mercimek-Mahmutoglu, Canada |
| 11:45 – 12:00 |
386-O |
Neutral lipid storage disease presents with severe dilated cardiomyopathy and defected adipose triglyceride lipase (ATGL) gene
Y. Rahman, U |
| 12:00 – 12:15 |
589-O |
| Diagnosis of porphyrias: the Mayo clinic biochemical genetics laboratory four-year experience |
| S. Tortorelli, U.S.A. |
| 12:15 – 12:30 |
596-O |
Characterization of the locoregional brain energy profile in wild-type mice and identification of an energy deficit in a neurodegenerative model
F. Mochel, France |
| 11:00–12:30 |
PARALLEL SESSION IV
Rumeli Loft |
| Dietetics and Nutrition |
| Chairs: Anita MacDonald, Birmingham, U.K. |
| Gülden Köksal, Ankara, Turkey |
| 11:00 – 11:15 |
542-O |
| Cost of diet therapy in phenylketonuria in 10 European centres |
| A.M. Lammardo, Italy |
| 11:15 – 11:30 |
543-O |
| Effect of simplified PKU diet on phenylalanine levels in patients with hyperphenylalaninaemia |
| J.P. Jacobs, Switzerland |
| 11:30 – 11:45 |
544-O |
| Culturally sensitive care or why we need new paradigms in chronic care management |
| S. Stockler, Canada |
| 11:45 – 12:00 |
545-O |
| Growth and protein intake in phenylketonuria: Results of 398 Turkish children |
| H. Gokmen-Ozel, Turkey |
| 12:00 – 12:15 |
564-O |
Difficulties in the dietetic management of patients with early childhood onset – multiple Acyl Co-A dehydrogenase deficiency (MADD)
T. Dalkeith, Australia |
| 12:15 – 12:30 |
566-O |
| Overweight and obesity in a population of children with phenylketonuria |
| R. Skeath, U.K. |
| 12:30– 14:00 |
LUNCH AND POSTER VIEWING
Rumeli Hall |
| 12:30–14:00 |
SSIEM ANNUAL GENERAL MEETING
Anadolu Auditorium |
| 14:00–15:30 |
PARALLEL SESSION V
Anadolu Auditorium |
| Mitochondrial Disorders A |
| Chairs: Linda de Meirleir, Brussels, Belgium |
| Çetin Kocaefe, Ankara, Turkey |
| 14:00 – 14:15 |
210-O |
| First report of a mitochondrial encephalopathy associated to SDHD mutations |
| JM. Nuoffer, Switzerland |
14:15 – 14:30 |
227-O |
Establishment of a neuronal cell model of Coenzyme Q10 deficiency: Implications for pathogenesis and treatment of disorders of Coenzyme Q10 biosynthesis
K.E.C. Duberley, U.K. |
| 14:30 – 14:45 |
238-O |
| N-acetylcysteine a new and effective treatment in ethylmalonic encephalopathy |
| A. Burlina, Italy |
| 14:45 – 15:00 |
243-O |
| Mitochondrial arginyl-tRNA synthetase deficiency: acute neonatal presentation with lactic acidosis |
| R.M. Brown, U.K. |
| 15:00 – 15:15 |
246-O |
| Mitochondrial hepatoencephalopathies caused by mutations in DGUOK, MPV17, POLG and C10orf2 genes |
| T. Yamazaki, Japan |
| 15:15 – 15:30 |
250-O |
| Diagnoses and molecular bases of mitochondrial respiratory chain disorders in Japan |
| A. Ohtake, Japan |
| 14:00–15:30 |
PARALLEL SESSION VI
Marmara Hall |
| Molecular Mechanisms |
| Chairs: Gajja Salomons, Amsterdam, The Netherlands |
| Mike Gibson, Houghton, U.S.A. |
| 14:00 – 14:15 |
539-O |
| Comparative study of chimeric liver-specific promoter expression from a non-viral vector for hepatic gene therapy |
| H.M. Viecelli, Switzerland |
| 14:15 – 14:30 |
540-O |
| Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency |
| S. Brasil, Spain |
| 14:30 – 14:45 |
541-O |
Direct injections of HDAd into the liver is as effective but less toxic than intravenous injection for Crigler-Najjar syndrome gene therapy
F. Vetrini, U.S.A. |
| 14:45 – 15:00 |
571-O |
| Proteomics reveals new insights into the causes of hyperammonemia in methylmalonic acidemia |
| R.J. Chandler, U.S.A. |
| 15:00 – 15:15 |
577-O |
| Absolute quantification of metabolic enzymes: stoichiometry of glycolysis |
| G.A. Martens, Belgium |
| 15:15 – 15:30 |
582-O |
| Systems analysis of inherited diseases: studying the impact of mutations on protein interactions |
| S.W. Gersting, Germany |
| 14:00–15:30 |
PARALLEL SESSION VII
Topkapı Hall |
| Aminoacid Disorders |
| Chairs: Anupam Chakrapani, Birmingham, U.K. |
| Helen Michelakakis, Athens, Greece |
| 14:00 – 14:15 |
005-O |
| Fatal cerebral edema associated with serine deficiency in CSF |
| I.M.L.W Keularts, The Netherlands |
| 14:15 – 14:30 |
027-O |
| Pyrroline-5-carboxylate (p5c) synthase deficiency: Novel clinical and biochemical insights |
| D. Martinelli (Italy) |
| 14:30 – 14:45 |
033-O |
| Glutamine synthetase deficiency in a 3 year old with severe neurological disease |
| J. Haberle, Switzerland |
| 14:45 – 15:00 |
035-O |
| D-amino acids as diagnostic markers for inborn errors of metabolism |
| W.F. Visser, The Netherlands |
| 15:00 – 15:15 |
043-O |
| Successful treatment of molybdenum cofactor deficiency type A with cyclic pyranopterin monophosphate (cPMP) in five patients |
| A. A.Veldman, Australia |
| 15:15 – 15:30 |
049-O |
Metabolic correction and long-term rescue of murine intermediate maple syrup urine disease (iMSUD) using human amniotic epithelial cell transplantation (haec-tx)
K.J. Skvorak, U.S.A. |
| 14:00–15:30 |
PARALLEL SESSION VII
Rumeli Loft |
| Carbohydrate/Glycosylation Disorders |
| Chairs: Emile Van Schaftingen, Brussels, Belgium |
| Rene Santer, Hamburg, Germany |
| 14:00 – 14:15 |
173-O |
| Mutations in ubiquitously expressed glucose-6-phosphatase catalytic subunit (G6PC3) cause Dursun syndrome |
| S. Banka (U.K.) |
| 14:15 – 14:30 |
186-O |
| Biochemical and glycomic effects of diet relaxation in classical galactosaemia |
| K. Coss (Ireland) |
| 14:30 – 14:45 |
193-O |
Ultra fast and sensitive liquid chromatography tandem mass spectrometry (LC-MS/MS)-based assay for newborn screening of galactose-1-phosphate uridyltransferase and galactokinase deficiencies
Y. Li (U.S.A.) |
| 14:45 – 15:00 |
194-O |
| Generation and characterization of mouse model of polyglucosan body disease |
| H.O. Akman (U.S.A.) |
| 15:00 – 15:15 |
204-O |
| Clinical characterization of a novel congenital disorder of glycosylation (DPM2 mutation) |
| R. Barone (Italy) |
| 15:15 – 15:30 |
207-O |
| CDG-II caused by mutations in a novel gene probably associated with Golgi function |
| R. Zeevaert (Belgium) |
| 15:30–16:00 |
COFFEE BREAK
Rumeli Hall |
| 16:00–18:00 |
PLENARY SESSION IV
Anadolu Auditorium |
| Inborn Errors of Bile Acid Metabolism |
| Chairs: Jean Marie Saudubray, Paris, France |
| Matthias Baumgartner, Zurich, Switzerland |
| 16:00–16:30 |
Physiology and Control of Bile Acid Metabolism |
| Ronald Oude-Elferink, Amsterdam, The Netherlands |
| 16:30–17:00 |
Peroxisomal Disorders of Bile Acid Metabolism |
| Sacha Ferdinandusse, Amsterdam, The Netherlands |
| 17:00–17:30 |
Non-Peroxisomal Disorders of Bile Acid Metabolism |
| Peter Clayton, London, U.K. |
| 17:30–18:00 |
Cholestasis of Pregnancy |
| Catherine Williamson, London, U.K. |
| 18:00–20:00 |
POSTER WALK WITH SNACKS AND DRINKS
Rumeli Hall |
| 20:00 |
FREE EVENING |
| SEPTEMBER 2, 2010 - THURSDAY |
| 08:30–10:00 |
PLENARY SESSION V
Anadolu Auditorium |
| Proteins: Structure and Function, Proteomics |
| Chairs: Brian Fowler, Basel, Switzerland |
| Mahmut Çoker, İzmir, Turkey |
08:30–09:00 |
Protein Mass Spectrometry |
| Kevin Mills, London, U.K. |
09:00–09:30 |
High Throughput Structural Biology of Inherited Metabolic Diseases |
| Wyatt. W. Yue, Oxford, U.K. |
09:30–10:00 |
Mitochondrial Proteomics |
| Niels Gregersen, Aarhus, Denmark |
| 10:00–10:30 |
COFFEE BREAK
Rumeli Hall |
| 10:30–12:00 |
PARALLEL SESSION IX
Anadolu Auditorium |
| Lysosomal Disorders B |
| Chairs: Frits Wijburg, Amsterdam, The Netherlands |
| Kurt Ullrich, Hamburg Germany |
| 11:00 – 11:15 |
394-P |
Autophagosome Maturation is Impaired in Fabry Disease |
| M. Chévrier, Rouen, France |
| 11:15 – 11:30 |
|
| Genistein influences expression of genes coding for enzymes involved in glycosaminoglycan metabolism and corrects behavior in a mouse model of mucopolysaccharidosis type IIIB |
| G.Wegrzyn, Poland |
| 11:30 – 11:45 |
446-O |
| Identification of potential biomarkers and modifiers of CLN3 disease |
| A. Schulz, Germany |
| 11:45 – 12:00 |
472-O |
| Eliglustat tartrate, an investigational oral therapy for Gaucher disease type 1 (GD1): phase 2 results after 2 years |
| E. Lukina, Russian Federation |
| 12:00 – 12:15 |
473-O |
| Preliminary long-term safety, tolerability, and assessments of renal function of adult Fabry patients receiving treatment with AT1001 (Migalastat hydrochloride), a pharmacological chaperone, For up to 3 years |
| D. Hughes, U.K. |
| 12:15 – 12:30 |
487-O |
| A pharmacogenetic approach to the selection of Fabry patients for pharmacological chaperone therapy |
| E. Benjamin, U.S.A. |
| 10:30–12:00 |
PARALLEL SESSION X
Marmara Hall |
| Fatty Acid/Organic Acid Disorders |
| Chairs: Christine Vianey-Saban, Cedex, France |
| Jerry Vockley, Pittsburgh, U.S.A. |
| 11:00 – 11:15 |
126-O |
| Insights into the pathophysiology of methylmalonic acidemia (MMA) from tissue-specific transgenic mouse models |
| I.Manoli, U.S.A. |
| 11:15 – 11:30 |
135-O |
| Liver transplantation for propionic acidaemia in children |
| R. Vara, U.K. |
| 11:30 – 11:45 |
139-O |
| LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood |
| C.Michot, France |
| 11:45 – 12:00 |
142-O |
| Liver disease in mitochondrial fatty acid oxidation defects: A French retrospective study from 158 patients |
| J. Baruteau, France |
| 12:00 – 12:15 |
153-O |
| Proteomic study on SCAD knock out mice reveals broader effects on mitochondrial function |
| W. Wang, U.S.A. |
| 12:15 – 12:30 |
162-O |
| Conformational destabilization of the variant MCAD protein is the structural mechanism underlying mcadd identified in newborn screening |
| E.M. Maier, Germany |
| 10:30–12:00 |
PARALLEL SESSION XI
Topkapı Hall |
| Phenylketonuria |
| Chairs: Francjan van Spronsen, Groningen, The Netherlands |
| Maria Gizewska, Szczecin, Poland |
| 11:00 – 11:15 |
303-O |
| Long-term follow-up of tetrahydrobiopterin (BH4) therapy in patients with BH4 deficiency in Japan |
| H. Shintaku (Japan) |
11:15 – 11:30 |
311-O |
| Molecular pathology of mutations in pah exon 11, impact on mRNA processing, and potential impact on therapy with 6R-tetrahydrobiopterin (BH4) |
| C.Heintz, Switzerland |
11:30 – 11:45 |
348-O |
| New insights into interallelic complementation of phenylalanine hydroxylase in phenylketonuria |
| M.K. Danecka, Germany |
| 11:45 – 12:00 |
317-O |
| Quantitative proton/T2-mapping and dti discloses microstructural changes in normal appearing brain tissue in treated pku-patients |
| A.M. Das, Germany |
| 12:00 – 12:15 |
320-O |
| The effects of phenylalanine levels on the adult brain: the use of a portable saccadometer to measure reaction time in the outpatient setting |
| C.Dawson, U.K. |
| 12:15 – 12:30 |
328-O |
| Efficacy and safety of treatment with BH4 before the age of 4 years in patients with mild phenylketonuria |
| O. Leuret, France |
| 12:00–13:00 |
LUNCH AND POSTER VIEWING
Rumeli Hall |
| 12:00 - 13:00 |
JIMD COMMUNICATING EDITORS MEETING
Sultan III |
| 12:00 - 13:00 |
ADULT METABOLIC GROUP MEETING
Sultan 2 |
| Chairs: Philip Sedel, Paris, France |
| Speakers: TBA |
| 13:00 – 14:30 |
PARALLEL SESSION XII
Anadolu Auditorium |
| Mitochondrial Disorders B |
| Chairs: Jiri Zeman, Prague, Czech Republic |
| Wolfgang Sperl, Salzburg, Austria |
| 13:00 – 13:15 |
252-O |
| Lactic acid and beyond: quantitative in vivo metabolomic analysis of mitochondrial disease using magnetic resonance spectroscopy |
| J.E. Davidson, U.K. |
| 13:15 – 13:30 |
255-O |
| Severe X-linked mitochondriall encephalomyopathy associated with a mutation in apoptosis-inducing factor |
| G. Uziel, Italy |
| 13:30 – 13:45 |
258-O |
| ATP synthase deficiency due to a mutation of subunit ε, the first of a nuclear encoded subunit |
| J.A. Mayr, Austria |
| 13:45 – 14:00 |
259-O |
| The utility of targeted array cgh in the diagnosis of mitochondrial related disorders |
| H.L. Zhan, U.S.A. |
| 14:00 – 14:15 |
260-O |
| Mitochondrial VDAC1 İS central to glucose homeostasis by interacting with hexokinase 2 and enhancing AKT signaling |
| A.Raghavan, U.S.A. |
| 14:15 – 14:30 |
276-O |
| Liver transplantation for mitochondrial cytopathies in children: a single centre experience |
| R. Vara, U.K. |
| 13:00 – 14:30 |
PARALLEL SESSION XIII
Marmara Hall |
| Neurotransmitter Disorders |
| Chairs: Barbara Plecko, Graz, Austria |
| Jaime Campistol, Barcelona, Spain |
| 13:00 – 13:15 |
530-O |
| Association of low CSF serotonin and the SLC6A4–Gly56Ala mutant serotonin transporter gene with atypical autism |
| D.E.A. Adamsen, Switzerland |
| 13:15 – 13:30 |
528-O |
| Pharmacological chaperones for the aromatic amino acid hydroxylases |
| A. Martinez, Norway |
| 13:30 – 13:45 |
525-O |
| Value of phenylalanine loading in pediatric patients with dopa-responsive dystonia |
| T.H. Opladen, Germany |
| 13:45 – 14:00 |
534-O |
| Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic acid decarboxylase deficiency |
| M. Barth, France |
| 14:00 – 14:15 |
536-O |
| Functional studies of disease-related variants in human tryptophan hydroxylase 1 and 2 |
| I.Winge, Norway |
| 14:15 – 14:30 |
532-O |
| Mouse models for BH4 deficiency by targeting the 6-pyruvolytetrahydropterin synthase gene Pts |
| D.E.A. Adamsen, Switzerland |
| 13:00 – 14:30 |
PARALLEL SESSION XIV
Topkapı Hall |
| Homocysteine And Vitamins |
| Chairs: Isabel Tavares de Almeida, Lisbon, Portugal |
| Philip Mayne, Dublin, Ireland |
| 13:00 – 13:15 |
060-O |
S-adenosyl homocysteine accumulation decreases global protein
arginine methylation status in cultured human endothelial cells |
| R. Esse, Portugal |
| 13:15 – 13:30 |
062-O |
| Search for novel therapeutic targets in cystathionine beta-synthase deficiency |
| V.K.O. Ich, Czech Republic |
| 13:30 – 13:45 |
063-O |
| Aldehyde-adduction of fibrillin-1: a novel pathogenic mechanism to explain the presence and absence of marfanoid connective tissue distrubances in genetic homocytinurias |
| K.N. Maclean, U.S.A. |
| 13:45 – 14:00 |
508-O |
| Atypical presentation of antiquitin deficiency in a female with neonatal hypoglycemia, hyperlacticacidemia and intractable myoclonic epilepsy |
| S. Mercimek-Mahmutoglu, Canada |
| 14:00 – 14:15 |
067-O |
| Effect of intracellular SAH accumulation and DNA hypomethylation on DDAH activity |
| M.S. Rocha, The Netherlands |
| 14:15 – 14:30 |
511-O |
| Pyridoxal 5’-phosphate concentration in cerebrospinal fluid Factors influencing concentration |
| E.J. Footitt, U.K. |
| 15:00 – 19:00 |
AFTERNOON EXCURSIONS |
| 20:00 – 24:00 |
SYMPOSIUM DINNER
Hilton Otel |
| SEPTEMBER 3, 2010 - FRIDAY |
| 09:00 – 10:30 |
PLENARY SESSION VI - Anadolu Auditorium
Inborn Errors of Metabolism and the Kidney
Chairs: Can Fıçıcıoğlu, Philadelphia, U.S.A.
Robert Kleta, London, U.K. |
| 09:00 – 09:30 |
Cystinosis
William van't Hoff, London, U.K. |
| 09:30 – 10:00 |
Hyperoxaluria
Bernd Hoppe, Cologne, Germany |
| 10:00 – 10:30 |
Renal Disease in Methylmalonic Aciduria
Stephanie Grünewald, London, U.K. |
| 10:30 – 11:00 |
COFFEE BREAK
Rumeli Hall |
| 11:00 – 12:30 |
PLENARY SESSION VII - Anadolu Auditorium
Novel Approaches in Lysosomal Storage Disorders
Chairs: John Walter, Manchester, U.K.
Maurizio Scarpa, Padova, Italy |
| 11:00 – 11:30 |
Biomarkers in the Diagnosis of Lysosomal Storage Disorders
Johannes Aerts, Amsterdam, The Netherlands |
| 11:30 – 12:00 |
Expanding Spectrum of LSDs
Jutta Gartner, Göttingen, Germany |
| 12:00 – 12:30 |
Experimental Treatment Options for LSDs
Alessandra Biffi, Milano, Italy |
| 12:30 – 13:30 |
ICIEM - IOC MEETING
Sultan III |
| 12:30 – 13:30 |
LUNCH AND POSTER VIEWING
Rumeli Hall |
| 13:30 – 14:00 |
ARCHIBALD GARROD AWARD
Anadolu Auditorium |
| 14:00 – 15:00 |
KOMROWER LECTURE - Anadolu Auditorium
Newborn screening: how are we travelling, and where should we get to?
Bridget Wilcken, Westmead, Australia |
| 15:00 – 16:00 |
LATE BREAKING NEWS - Anadolu Auditorium
Cornelis Jakobs, Amsterdam, The Netherlands |
| 15:00 - 15:15 |
509-O |
| Cerebral folate transport deficiency: a novel inherited disorder of folate Metabolism |
| R. Steinfeld, Germany |
| 15:15 - 15:30 |
400-O |
| RNAset2-deficient cystic leukoencephalopathy is a new lysosomal disorder |
| M. Henneke, Germany |
| 15:30 - 15:45 |
|
| Novel form of D-2-hydroxyglutaric aciduria caused by autosomal dominant gain-of-function mutations in IDH2 |
| M. Kranendijk, The Netherlands |
| 15:45 - 16:00 |
|
| SRD5A3 is the long-sought polyprenol reductase and is mutated in a new congenital disorder of glycosylation |
| D. Lefeber, The Netherlands |
| 16:00 – 16:15 |
2011 PRESENTATION
Anadolu Auditorium |
| 16:15 – 16:30 |
SSIEM AWARDS
Anadolu Auditorium |
| CLOSURE |
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