OP-122 Mucopolysaccharidosis type II in turkey from the east to the west

AimThe aims of reporting these cases were to better characterise the phenotypic and genotypic features of a large group of Turkish Mucopolysaccharidosis type II (MPS II) patients from two different parts of Turkey and to describe the clinical outcomes of these patients after initiating enzyme replacement therapy (ERT) to varying ages in real-life clinical practice.Material and MethodForty-six male patients diagnosed with MPS II (enzymatically and/or molecularly confirmed) from two medical centers in Turkey, Ege University Medical Faculty in İzmir and Çukurova University Medical Faculty in Adana, were enrolled in this study. Clinical data of patients were retrospectively collected from the patients’ medical records after ethical committee approval.ResultsConsanguinity data showed that in thirteen cases (30%) of the patients. Ten patients had a sibling with MPS II and two patients had a cousin with MPS II. Eight novel mutations were detected. The first symptoms of MPS II most observed by the parents were coarse face (30,4%), abdominal distension (19,6%), speaking delay (15,2%), and macrocephaly (10,9%). Patients were referred for diagnosis primarily by pediatricians (83%), followed by pediatric gastroenterologists, neurologists, and psychiatrists, each accounting for 8%. While the mean age of first symptom was 21±12 months, ages at diagnosis ranged from 2 months to 26.5 years. So, the mean duration from the first symptom to diagnosis and from the diagnosis to ERT were 19.7±40.4 and 6,1±0,8 months, respectively. The mean age of the patients at the last visit was 124 (±68) months in the group receiving ERT, while 90 (±59) months in the group not receiving ERT.ConclusionsIn our country, MPS II is not part of the newborn screening program. Hence, it is crucial to identify symptoms early for prompt diagnosis, given its broad symptomatology.