SSIEM 2016 Annual Symposium ‐ Content

SSIEM 2016 Annual Symposium Content Rome, Italy, September 2016 01. Inborn errors of metabolism in adults O-001 Interim data from a randomized, placebo controlled, phase 1 study of ALN-AS1, an investigational RNAi therapeutic for the treatment of acute hepatic porphyria E Sardh, P Harper, N Al-Tawil, C Penz, A Chan,WQuerbes, A Simon, P Stein, D Rees O-002 A double-blind placebo-controlled trial of triheptanoin in adult polyglucosan body disease R Schiffmann, M Wallace, D Rinaldi, J Turner, J Y Hogrel, D Blankenship, F Mochel 02. Novel diagnostic/laboratory methods O-003 Multi-omics tools for the diagnosis and treatment of rare neurological disease T L Simmons, L Abela, R Spiegel, K Steindl, P Joset, A Klein, Y Zehavi, L Crowther, A Rauch, B Plecko 03. Newborn screening O-004 Investigating applications of next generation sequencing in newborn screening C M Gladding, A Milano, J Dawe, G Peck, P Winship, S L Richards, D Grafham, M Sharrard, D Johnson, L Weaver, J R Bonham, A C Goodeve, A Dalton O-005 A newborn screening method for cerebrotendinous xanthomatosis: data from a pilot validation study F M Vaz, A H Bootsma,W Kulik, A E DeBarber, H H Huidekoper O-006 Anewmetabolic disorder in human cationic amino acid transporter-2 mimicking arginase deficiency in newborn screening R Yahyaoui, J Blasco-Alonso, C Benito, E Rodriguez-Garcia, A Dayaldasani, A Vega, C Perez-Cerda, B Perez 04. Dietetics and nutrition O-007 Longitudinal study examining nutritional status in children with organic acidaemias on a modular feed using a protein free module especially developed for children with IMD A Daly, S Chahal, S Evans, C Ashmore, A MacDonald O-008 Dietary treatment of 49 MSUD Italian patients S Salera, SM Bernabei, A Dianin, AMDi Mauro,GGugelmo, I Fasan, G Gallo, C Musiani, A Pozzoli, R Pretese, G Tarrini, S Tursi, C Zucchi, J Zuvadelli O-009 Protein intake and physical activity are associated with body composition in patients with phenylalanine hydroxylase (PAH) deficiency R Jani, K E Coakley, T D Douglas, R H Singh 05. Phenylketonuria: general O-010 Secondary pterins alteration in patients with phenylalanine hydroxylase deficit F Nardecchia, G Valentini, F Chiarotti, S Santagata, C Carducci, A Angeloni, V Leuzzi O-011 Phenylalanine hydroxylase N-terminal domain is an allosteric binding site and can be target for pharmacological chaperone design D Patel, J Kopec, F Fitzpatrick, T J McCorvie,WW Yue 06. Phenylketonuria: treatment, BH4 O-012 The first structure of full-length phenylalanine hydroxylase has finally been determined EK Jaffe, ECArturo,KGupta, AHeroux, L Stith, P J Cross, E J Parker, P J Loll O-013 Evaluation of long-term safety and efficacy of pegvaliase treatment for adults with phenylketonuria: updated year 4 results N Longo, J Thomas, M Wasserstein, B Burton, J Vockley, D Grange, C Decker, H H Weng, M Li, B Schweighardt, R Zori O-014 Large neutral amino acid supplementation as a possible alternative treatment for adult PKU patients: evidence in PKU mice D Van Vliet, V M Bruinenberg, P N Mazzola, K Anjema, H J R Van Faassen, P De Blaauw, I P Kema,M R Heiner-Fokkema, E A Van der Zee, F J Van Spronsen O-015 New generation of chemical scaffolds able to bind to human phenylalanine hydroxylase J Leandro,MPAmaro, R Paterna, R Lopes,KGomes, I Tavares de Almeida, P M P Gois, P Leandro J Inherit Metab Dis (2016) 39 (Suppl 1):S1–S34 DOI 10.1007/s10545-016-9970-9 07. Sulphur amino acid disorders O-016 Effect of enzyme replacement therapy on osteoporosis in several CBS-deficient homocystinuric mouse models T Majtan, I Park, R S Carrillo, J P Kraus O-017 S-Adenosylhomocysteine alters methylation of cellular RNA MBarroso,KThuring,LTserovski, SGupta,WDKruger,HJBlom, I Tavares de Almeida, J Loscalzo, R Castro,D E Handy,MHelm 08. Other amino acid disorders O-018 Minimal NTBC concentrations necessary to prevent formation of succinylacetone in tyrosinemia type 1 patients H E Van Reemst, N S Kienstra,W G Van Ginkel, E Van Dam, P De Blaauw, A Daly, A MacDonald, M R Heiner-Fokkema, F J Van Spronsen O-019 Genetic cause and prevalence of hydroxyprolinemia C Staufner, T B Haack, P Feyh, G Gramer, D Ediga Raga, C Terrile, S Sauer, J G Okun, J Fang-Hoffmann, E Mayatepek, H Prokisch, G F Hoffmann, S Koelker O-020 Gain of function mutation inGLS1 causes infantile onset cataract and profound cognitive impairment L Rumping, F Tessadori, E Vringer, P Pouwels, S M C Savelberg, M Bakkers, R J J Ramos, P A W Schellekens, K J Duran, M S van der Knaap, H C M Prinsen, R H J Houwen, G W van Haaften, N M Verhoeven-Duif, P M van Hasselt, J J M Jans 09. Urea cycle disorders O-021 Ammonia activates hepatic autophagy in vivo and its enhancement protects against acute and chronic hyperammonemia L Soria, N Pastore, PAnnunziata, E Polishchuk, S Montefusco, D Medina, R Polishchuk, A Ballabio, N Brunetti-Pierri 10. Organic acidurias: branched-chain O-022 A fish model for propionic acidemia: increased survival and improvement of neurological phenotype by anaplerotic diet VGinocchio, EDe Felice, F T Barrows, RM Sepe, P Sordino, F G Salierno, I Conte, N Brunetti-Pierri O-023 Medium term outcome of liver transplantation for children with propionic acidaemia R Vara, H Mundy, T Grammatikopoulos, N Heaton, M Rela, A Dhawan, N Hadzic O-024 Propionate anions, accumulated in propionic acidemia, affect cardiac excitation-contraction coupling, gene regulation and cellular growth, which may contribute to heart dysfunction K Ford, A Hulikova, P Swietach O-025 Axonal peripheral neuropathy in propionic acidaemia: a severe side effect of long-term metronidazole treatment DDiodato,DMaiorani,FDeodato,R Taurisano,AD’Amico,M Di Capua, R Boldrini, J Della Bella, E Bertini, C Dionisi-Vici O-026 Stable isotope breath testing to assess in vivo metabolite flux in methylmalonic acidemia (MMA). From mouse models to patients I Manoli, E A Harrington, Y P Ktena, J Gagne, S Smyth, J Hattenbach, J Senac, J L Sloan, K Y Chen, C P Venditti O-027 Insights into disease mechanisms of cblA-type methylmalonic aciduria from 67 new patients and functional MMAA missense mutation characterization T Plessl, C Buerer, S Lutz, M Baumgartner, D S Froese O-028 The utility of patient-derived hepatocytes for developing liverdirected therapies in propionic acidemia BRWamhoff,RAFigler,MSCollado,MOlson,AArmstrong,AD Dash, S Hoang, K A Chapman,M Summar 11. Organic acidurias: others O-029 Update of combined D, L-2-hydroxyglutaric aciduria: new cases and restoration of the defect in vitro A Pop, E A Struys, B Nota, E E W Jansen, W A Kanhai, M R Fernandez Ojeda, S J M Van Dooren, J E Abdenur, I Baric, A M Das, A H El-Gharbawy,M Lines, L Smith, NWeinhold,M S Van der Knaap, M Williams, G S Salomons 12. Carbohydrate disorders O-030 The development and validation of a semi-automated enzyme panel for muscle glycolytic disorders R G Wigley, D G Burke, K Harvey, S J R Heales O-031 A conserved phosphatase destroys toxic glycolytic side products in mammals and yeasts F Baldin, F Collard, I Gerin, J Bolsee, G Noel, J Graff, M Veiga-da-Cunha, V Stroobant, D Vertommen, A Houddane, M Rider, C Linster, E Van Schaftingen, G T Bommer O-032 Is G6PC3, the enzyme deficient in severe congenital neutropenia type 4, really a glucose-6-phosphatase? M Veiga-da-Cunha, N Chevalier, E Van Schaftingen 13. Disorders of fatty acid oxidation and ketone body metabolism O-033 Characterizing the molecular architecture of mitochondrial energy metabolism apparatus J Vockley, J Palmfeldt, N Gregersen, A Makhov, J F Conway, X Zeng, N Yates, Y Wang O-034 Mitochondrial fatty acid biosynthesis (mFASII) mediates the substrate switch in white skeletal muscle of verylong-chain acyl-CoA dehydrogenase (VLCAD)-deficient mice S Tucci, Z Wehbe, U Spiekerkoetter O-035 Decreased stability of the OCTN2 carnitine transporter in patients with primary carnitine deficiency M Frigeni, B Balakrishnan, F Ingoglia, X Yin, M Pasquali, N Longo O-036 Cellular models for medium-chain acyl-CoA dehydrogenase deficiency based on induced pluripotent stem cell technology Y Zhou, R Al-Saaidi, R K J Olsen, L Bolund, N Gregersen, L Aagaard, Y Luo, P Bross O-037 TANGO2 deficiency, a novel neurometabolic disorder with recurrent encephalo-cardio-myopathic crises C Muhlhausen, L S Kremer, F Distelmaier, B Alhaddad, M Hempel, H Prokisch, T Haack, R Santer S2 J Inherit Metab Dis (2016) 39 (Suppl 1):S1–S34