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Screening for Krabbe disease: The first two years experience

Acta Neurologica Scandinavica Aug 01, 2019

Pannuzzo G, et al. - In this investigation, researchers identified the heterozygous carriers of Krabbe disease or globoid cell leukodystrophy, an autosomal recessive lysosomal storage disorder characterized by a deficiency in galactosylceramidase which hydrolyses galactosylceramide and galactosylsphingosine, in Sicily (Italy) to avoid the birth of foetuses impacted by this disease and ultimately in the presence of positive embryos to direct them towards treatment before symptoms occur when it is too late to receive useful therapy. Over the past 2-years, the authors have analyzed nearly 100 subjects and identified 40 Krabbe disease heterozygote carriers. The knowledge gained from the examinations given and will bring significant practical advantage to the households in which the disease is manifested, as well as to scientists dealing with this rare disease. Finally, the results of the study will be useful in knowing the real incidence of Krabbe disease in a large territory where it is particularly present and in starting a register of Krabbe, which currently does not exist.
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