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Inborn metabolic disorders – An update

Dhananjayan R., Rajeswari S., Swaminathan S.*


Inborn metabolic disorders (IMD) are a class of genetic diseases involving disorders of metabolism and are congenital. Majority of such disorders are due to defects of a single gene that code for enzymes that facilitate conversion of various substrates into products. IMDs are referred to as congenital metabolic diseases or inherited metabolic diseases. Recent innovations in medical technology have changed new-born screening programs. The early and specific diagnosis of inborn metabolic disorders and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients. The topic of IMD is challenging for most physicians. The number of known metabolic disorders is probably as large as the number of presenting symptoms that may indicate metabolic disturbances. Advances in the diagnosis and treatment of IMDs have improved the outlook for many of these conditions so that early diagnosis, if possible in infancy, can be helpful. At present Laboratory testing for several metabolic disorders is done by new-born screening programs in all children in many hospitals to rule out IMD early. The content of this review articles will make awareness among the researchers on many clinical manifestations of IMD providing the basis for early diagnosis for initiating prompt treatment.


IMD; GD; Genetic disorders; PKU; MSUD

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