سامانه نورومتابولیک ایران لکودیستروفیها

عنوان انگليسی

Iranian Neurometabolic Registration site Leukodystrophies

خلاصه انگلیسی

Neurometabolic diseases have important roles in the children disabilities and developmental disorders The field of pediatric Neurometabolic Disorders discuss about diagnosis and treatment in children with metabolic disorders, including: Central nervous system white matter disorders (leukodystrophies)Disorders of aminoacids Disorders of organic acid metabolism Disorders of Lysosomal storage diseases Mitochondrial disorders In the past three seminars we discussed about Organic academia, Lysosomal disorders and mitochondrial diseases. In this seminar our lectures will be about Leukodystrophies, a group of neurometabolic disorders that affect the growth or maintenance of white matter or myeline and manifest with motor and cognition impairment. The prevalence of genetic leukodystrophies is about 2/10 000 in Europe. Because consanguineous marriage is more common in iran we expect more cases in our country. There are 24 registered cases of leukodystrophies in Iranian Registry of neurometabolic diseas site as following table: Only clinical and biochemical confirmed cases are registered

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