Inborn Metabolic Disorders- A Comprehensive Overview

Inborn Metabolic Disorders- A Comprehensive Overview

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Inborn metabolic disorders are rare, but the diseases with which they are associated often have a significant impact on development, growth, and long-term health of affected children. Early detection and intervention are very essential to avoiding disastrous consequences associated with these diseases. Hundreds of disorders have been described until now and there has been a considerable clinical overlap between certain inborn errors. Resulting from this fact, the definite diagnosis of inborn errors depends on enzyme assays or genetic tests. Especially during the recent years, significant achie...