- An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist

Diagnosis of neurometabolic disorders always poses difficulty to physicians. This is mainly due to the fact that these disorders are rare and most of them share common clinical manifestations. The main obstacle to making an accurate diagnosis is a failure in considering the possibility clinically. Definitive long-term treatment usually requires that a specific diagnosis is made. With the progress of basic science and technology over the past century, the pathogenesis of these disorders has been understood clearly. This knowledge has opened a possibility of therapeutic intervention for many of these disorders.

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