eighteen years of experience in biochemical analysis and prenatal diagnosis of krabbe disease

krabbe disease (kd) is a rare autosomal recessive neurodegenerative disorder characterized by severe myelin loss and the presence of globoid bodies in the white matter. the gene for kd (galc) is located on chromosome 14q24.3-q32.1. the disease results from a marked deficiency of the lysosomal enzyme b-galactocereberoside. the symptoms of kd become evident during the first few months of life and include excessive irritability and crying, hyperpyrexia, feeding problem, and failure to thrive. we made a total of 36 biochemical diagnoses for patients who were suspicious of krabbe disease from aug. 1989 to aug. 2009. of them, 10 were confirmed by enzymatic investigation in collaboration with erasmus university.