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

Metabolic disorders caused by genetic mutations resulting in enzyme deficiencies in an intermediary metabolic pathway constitute a wide spectrum of diseases in clinical practice. The term 'inborn errors of metabolism' was introduced by Sir Archibald Garrod at the beginning of the twentieth century.[1] Since then, a great variety of hereditary metabolic disorders have been identified, and there has been a phenomenal increase in the knowledge regarding these disorders.[2] Although individually rare, they are collectively numerous. Their number, complexity and varied clinical presentation present a formidable challenge to the clinician. Yet, in many cases, prevention of death or permanent neurological sequele in patients with these disorders is dependent on early diagnosis and institution of appropriate therapy. In addition to comprehensive clinical assessment, imaging studies, electrophysiological investigations and histopathological information from biopsies, which help in establishing the distribution and type of abnormality, biochemical studies are required in many cases to confirm the diagnosis.

Over one-third of the inherited metabolic disorders are characterized by the central nervous system involvement and neurological symptoms are the presenting and the most prominent clinical problems associated with them. Among the neurometabolic disorders, there are particularly five common neurological presentations: chronic encephalopathy, acute encephalopathy, movement disorder, myopathy and psychiatric or behavioral abnormalities.[3]

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