Inborn errors of metabolism: Review and data from a tertiary care center.

摘要: Inherited metabolic disorders are a heterogeneous group of genetic conditions mostly occurring in childhood. They individually rare but collectively numerous, causing substantial morbidity and mortality. We have retrospectively reviewed total eight hundred sixty nine cases with different age groups that had been referred from several diagnostic centers hospitals India to the Department Metabolism Narayana Hrudayalaya, as suspected inborn errors metabolism. Advanced techniques applied were diagnose Data analyzed indicates occurrence our population. The need screen for an error metabolism arises out fact most take irreversible effects time progress. Emphasis has be laid on early detection prompt management, which could help alleviating symptoms preventing complications consequent incapacitation.