文章基本信息

标题：Case reports of metabolic disorders from Nepal
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作者：Arti Sharma Pandey
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2019
卷号：21
页码：1-8
DOI：10.1016/j.ymgmr.2019.100542
出版社：Elsevier B.V.
摘要：Background The prevalence of metabolic disease in Nepal is largely unknown. Some consideration has been given by the nepalese government for high prevalence of congenital disorders in some populations, but disorders due to enzymatic deficiencies have not been considered as a class of diseases where timely diagnosis and intervention might be possible. No case for these disorders has been made so far, however, findings of many rare metabolic diseases have been reported in literature by the nepalese medical fraternity. Methods A search for case reports on metabolic disorders listed according to International Classification of Diseases −11 was performed using the google search engine. Results A total of 443 cases have been discovered presented in the literature. This does not include disorders that might be due to lifestyle and behaviour. Most of the reported cases have been identified based on clinical acumen, radiological and histopathological findings. Conclusions Glucose 6 phosphate dehydrogenase deficiency, Wilson's disease and lysosomal disorders should be considered for early diagnosis through newborn screening along with the acknowledged disorders hypothyroidism and hemoglobinopathies in Nepal. Early intervention in these disorders can significantly reduce morbidity and mortality in infancy.
关键词：Enzyme deficiency ; ICD 11 ; Inborn errors of metabolism ; Metabolic disorders ; Nepal