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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