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Diagnosis of inherited metabolic disorders at the enzymatic level

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Inherited metabolic disorders are a major cause of infant mortality in eastern and western Europe and at present about 3500 different disorders are known. This high number combined with the low incidence of each individual disease often makes their diagnosis difficult and requires demonstration of the corresponding metabolic defect at the molecular level. Once the diagnosis has been established, therapeutic measures can be taken. Moreover, the parents can be advised as to the recurrence risk for future children and the possibilities of prenatal diagnosis.

A considerable number of these diseases is caused by a deficiency of a specific enzyme, which can be demonstrated in the clinical genetics laboratory. Many of these enzyme assays are very time-consuming and subject to fluctuations which limit the diagnostic services of the enzyme laboratory.

The aim of this project is to replace these cumbersome assays with simple, accurate assays, which will facilitate and broaden the diagnostic services of the enzyme laboratory. New potential fluorogenic substrates will be designed, synthesised and tested. This approach has proved successful during the last few years for four different diseases.

Since these new substrates have commercial value they will provide a considerable and lasting income for the Russian laboratory where they were synthesised.

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Koordinator

Erasmus University Rotterdam
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Adresse

3000 DR Rotterdam
Niederlande

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Beteiligte (3)

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Letzte Aktualisierung: 19 September 1996

Mein Booklet

Permalink: https://cordis.europa.eu/project/id/INTAS-94-3625/de

European Union, 2024