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Krabbe disease

How is it diagnosed?

Although a characteristic feature of Krabbe disease may be identified by 'globoid cells' in brain tissue, diagnosis of this disease is confirmed by a blood test which measures the activity of an enzyme known as galactocerebrosidase (GALC). Mutation analysis of the galactocerebrosidase gene may also be carried out to diagnose this disease.

View What are the causes? What are the causes?  |  How is it treated? View How is it treated?

Medical text written April 2002 by Contact a Family. Approved April 2002 by Professor T Cox. Last updated March 2007 by Professor T Cox, Professor of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK.

 

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