UNCORRECTED PROOF heparan sulfate-dependent transport of active enzymes to lysosomes. Mol. Therapy 18:1268–1274. PMID: 20442709; PMC2911259 3. Lawrence, R., Brown. J.R., Al-Mafraji, K., Lamanna, W.C., Beitel, J.R., Boons, G.-J., Esko, J.D. and Crawford, B.E. (2012) Disease-specific non- reducing end carbohydrate biomarkers for mucopolysaccharidoses, Nature Chem. Biol. 8:197–204. PMID: 22231271; PMC3262053. doi:10.1016/j.ymgme.2014.12.080 79 Importance of family screening in Fabry disease: Reaching the bottom of the iceberg Fatih Ezgü, Serhat Koca, İlyas Okur, Gürsel Biberoğlu, Leyla Tümer, Sevcan Bakkaloğlu, Yasemin Erten, Alev Hasanoğlu, Gazi University Hospital, Ankara, Turkey Fabry disease is an X-linked disorder of glycosphingolipids that is caused by the deficiency of α-galactosidase A. The disease is associated with dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing small-fiber peripheral neuropathy, stroke, cardiac manifes- tations and chronic renal disease. Based on The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff, there are currently 765 mutations described. Although the incidence of inborn errors of metabolism in general is quite high in Turkey, there is almost no data about the patients with Fabry disease in the literature. The aims of the current study were to perform molecular screening within the families of 11 index cases previously diagnosed with Fabry disease and to review the molecular, clinical, laboratory and imaging data of all cases with mutations in the GLA gene. Detailed family history and comprehensive physical examination were carried out for every case included in the study. Leucocyte α-galactosidase A activity and DNA sequence analysis were made. Also blood samples were obtained for complete blood count, renal and liver function tests, lipids, low molecular weight lipoprotein, proteins C and S, antithrombin III, 24 hour urinary excretion of creatinine, protein, microalbumin, echo- cardiogram, electrocardiogram, carotid doppler, bone mineral density, respiratory function tests, magnetic resonance imaging, and ophthal- mologic examinations were made in cases with mutations in GLA gene. A total of 10 different mutations were discovered in 39 members of the 11 families. The eyes were the most frequently affected organs. A Prothrombin 20210 mutation was found in 4% and factor V Leiden mutation was found in 8% of patients. About 8% and 13% of the patients had increased antithrombin III and lipoprotein a levels respectively. It was noticed that there is significant molecular variability for the Turkish patients with α-galactosidase A deficiency. Majority of the female heterozygotes had at least involvement of the 1–2 systems. The presence of other risk factors should always be considered and investigated for the prevention of stroke in patients with Fabry disease. doi:10.1016/j.ymgme.2014.12.081 80 MPS I and MPS II: Minimal estimated incidence in Brazil and comparison to the rest of the world Andressa Federhen, Carla de Cássia Cascaes Batista, Maira Burin, Sandra Leistner-Segal, Ursula Matte, Célio Rafaelli, Fernanda Bender, Ana Carolina Brusius, Gabriela Pasqualim, Roberto Giugliani, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil The MPS Brazil-Network (MBN) was created in 2004 to provide easy access to diagnosis and to help in the management of MPS diseases in Brazil. To achieve these goals, the MBN provides information about the MPS, making it broadly available; provides the laboratory tests needed for the investigation of MPS in suspected subjects; supports educational initiatives and increases awareness about the MPS; provides specialized training for technicians and professionals; facilitates the access of patients to diagnostic and treatment centers; fosters research initiatives in the area and builds a comprehensive registry of Brazilian MPS cases. For the past ten years, the MBN has been trying to draw a picture of disease epidemiology in the country. Between 2004 and 2013, 1069 MPS patients were identified, being 197 with MPS I (18%) and 298 with MPS II (28%). In order to estimate the minimal incidence of MPS I and MPS II in Brazil, the number of MPS patients identified by MBN was divided by the total number of live births from 1994 to 2012. Only patients who were born in this period were considered. Similar studies of incidence and prevalence of MPS diseases were performed in countries like Canada, Israel, The Netherlands, Australia, Portugal, Sweden, Norway, Denmark, Tunisia, Taiwan, Saudi Arabia, France, Greece, United Kingdom and Czech Republic. The overall estimated incidence of MPS I and II (by 100,000 life births) in these countries ranged from 0.11 to 4.0 for MPS I and from 0.13 to 1.48 for MPS II. According the Brazilian Health System database, from 1994 to 2012 (19 years) 56,587,867 live births occurred in Brazil. Among all the patients diagnosed by the MBN, 138 MPS I and 220 MPS II patients were born during this period. So, the minimal incidence (by 100,000 life births) estimated for MPS I was 0.24, similar to Taiwan but much smaller than the incidence reported in other countries. Regarding MPS II, the minimal incidence was estimated as 0.38, similar to Sweden, Norway, Denmark, Tunisia and Czech Republic. Considering only male live births (28,948,394) in the same period in Brazil, the minimal incidence of MPS II was 0.75, much similar to the incidence estimated in British Columbia (0.9) and in West Australia (0.6) for male live births. Further studies, in progress, will contribute to estimate more accurately the incidence of MPS in Brazil. Since Brazil is a large country, to create and keep a database which truly reflects the epidemiology of disease in the country is a challenge in which the MBN is working on, as this information is important to support public policies aiming the better management of these treatable rare diseases. doi:10.1016/j.ymgme.2014.12.082 81 Project to empower young type III Gaucher disease patients to shape the future Niamh Finnegan, Great Ormond Street Hospital, London, UK The project is built upon a programme that had been running with the group of girls affected with type III Gaucher disease since 2006. For several years a group of girls with neuronopathic Gaucher disease (nGD) has been meeting bi-annually for a day of fun activities and to give them a chance to discuss common problems/ issues. This programme was focused on girls as the number of boys with type III in the UK is very small and the boys were either too young or too ill to participate. One young man has contributed to part of the empowering young adult's project but has not joined the meetings in person. As the girls in the group have grown older and become teenagers the common themes discussed at these days have related to problems around growing up and questions about the future. It proved to be a great success and very popular with the girls and their families. It is supported by the Gaucher Association UK. There are many challenges facing young people with type III Gaucher disease and this group identified specific issues that are relevant to Abstracts / Molecular Genetics and Metabolism 114 (2015) S11–S130 S43