galactosylceramidase


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galactosylceramidase

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Primers flanking exonic and promoter regions of the genes galactosylceramidase (GALC), [4] medium and very long chain acyl-CoA dehydrogenases [acyl-CoA dehydrogenase, C-4 to C-12 straight chain (ACADM) and acyl-CoA dehydrogenase, very long chain ACADVL)], galactose-1-phosphate uridyl transferase (GALT), and phenylalanine hydroxylase (PAH) were designed in the NYS NBS program using the Primer3[TM] free software available at http://frodo.
The biochemical diagnosis of Krabbe disease (KD), a lysosomal storage disease with deficiency of galactosylceramidase (GALC), can be carried out by determination of the residual enzymatic activity in a variety of biologic samples, such as fibroblasts, dried blood spots, leukocyte pellets, and even amniotic fluid cells.
Among these is Krabbe's disease, a rare hereditary condition characterized by a deficiency of galactosylceramidase.