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Biology Articles » Biochemistry » An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist

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

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


Rita Christopher1, Bindu P Sankaran2
1 Department of Neurochemistry, National Institute of Mental Health and Neuro Sciences, Post box 2900, Bangalore-560 029, India
2 Department of Neurology, National Institute of Mental Health and Neuro Sciences, Post box 2900, Bangalore-560 029, India

An open access article in Ann Indian Acad Neurol 2008;11:68-81.


Abstract

Neurological dysfunction is an important manifestation of inherited metabolic disorders. Although these are more common in childhood, adult onset forms with a different clinical presentation are often encountered. Recent advances in the diagnosis and treatment of these conditions have substantially improved the outcome in many of these conditions. This makes it essential that the practicing physician be familiar with the clinical presentation and diagnosis of these disorders. For the evaluation of a patient with a possible inborn error of metabolism, simple screening tests may aid in the diagnosis and provide direction for more comprehensive laboratory analysis. In this review, we present a practical approach to diagnosis of neurometabolic disorders. Establishing a specific diagnosis in these disorders will enable the clinician in offering a definitive long-term treatment, prognosis and genetic counselling.

Keywords: Biochemical tests, diagnosis, inborn errors

 


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