Diagnosis Of Inherited Neurometabolic Disorders : A Biochemical Approach
The past two decades have witnessed a rapid increase in the knowledge of the inherited neurometabolic disorders. The precise diagnosis of these disorders which is a challenge to the physician can be best accomplished by biochemical methods. Screening of clinically selected patients with simple che...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
1999-01-01
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| Series: | Annals of Indian Academy of Neurology |
| Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=1999;volume=2;issue=2;spage=87;epage=97;aulast=Christopher;type=0 |
| Summary: | The past two decades have witnessed a rapid increase in the knowledge of the inherited neurometabolic disorders. The precise diagnosis of these disorders which is a challenge to the physician can be best accomplished by biochemical methods. Screening of clinically selected patients with simple chemical urine tests and routine blood chemistry investigations followed by measurement of specific metabolites and assay of the relevant enzymes confirms the diagnosis in most cases. Biochemical diagnosis of inherited neurometabolic disorders although expensive is rapid and confirmatory and therefore aids in treatment and further prevention of these rare disorders. |
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| ISSN: | 0972-2327 1998-3549 |