Screening for Krabbe disease: The first 2 years' experience

Globoid cell leukodystrophy or Krabbe disease is an autosomal recessive lysosomal storage disorder characterized by a deficiency in galactosylceramidase (GALC) which hydrolyses galactosylceramide and galactosylsphingosine (psychosine). The accumulation of psychosine results in the apoptosis of myelin‐forming cells. The goals of this research were to identify the heterozygous carriers of Krabbe disease in Sicily (Italy), to prevent the birth of foetuses affected by this disease, and eventually in the presence of positive embryos to direct them towards a treatment before symptoms occur when it is too late to receive a useful therapy.

• Publication year

  2019

• Venue

  Acta Neurologica Scandinavica

• Publication date

  2019-07-27

• Fields of study

  Medicine

• Identifiers
  DOI 10.1111/ane.13153PMID 31350907
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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