Inborn Errors of Metabolism
Journal Title: IOSR Journal of Nursing and health Science - Year 2019, Vol 8, Issue 1
Abstract
Inborn errors of metabolism (IEMS) are due to congenital metabolic disorders. They are caused by defects related to synthesis, metabolism and storage of biochemical compounds. Sudden illness, nonspecific features like poor feeding leathery, vomiting, failure to thrive, apnea, organomegaly are the features. In acute presentation the disorder appear normal at birth but in chronic presentation the disorder appear from birth to adult hood. Based on the pathophysiology IEMS are classified into intoxication group which include phenylketonuria, alkaptonuria, Duchenne muscular dystrophy and thalassemia. Energy metabolism group which include mitochondrial disorders and complex molelcule group which includes Gauchers disease, Tay sachs disease, Niemann pick disease, their clinical features, diagnosis and treatment.
Authors and Affiliations
Chaitanya Kiran Kumar
Keywords
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