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

Molecular genetic studies are increasingly relied on to confirm the diagnosis of many neurometabolic diseases. The advent of molecular genetic testing for carrier detection is a major advance in genetic counselling of family members of individuals affected with lysosomal enzyme diseases in which specific disease-causing mutations have been identified. Nonetheless, there remain some limitations on the general diagnostic use of this methodology. With a few exceptions, in all inherited metabolic diseases for which the gene responsible has been isolated and disease-producing mutations characterized, no single mutation accounts for all cases. Patients may have mutant alleles that have not yet been characterized, or they may be so rare that their routine testing may not be economically feasible. Hence, although the detection of a certain mutation in tissue extracted from a patient is considered a strong support for diagnosis, failure to demonstrate the presence of the mutation does not rule out the diagnosis.

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