Clinical and molecular findings in 6 Turkish cases with Krabbe disease.

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Aslanger A. D., Şengenç E., Kölemen A. B., Demiral E., Alkan A., İşcan A., ...More

The Turkish journal of pediatrics, vol.64, no.1, pp.69-78, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 64 Issue: 1
  • Publication Date: 2022
  • Doi Number: 10.24953/turkjped.2020.3713
  • Journal Name: The Turkish journal of pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.69-78
  • Keywords: GALC gene, Krabbe disease, newborn screening tests, GALC GENE, MUTATIONS
  • Bezmialem Vakıf University Affiliated: Yes

Abstract

Background. Krabbe disease is a rare lysosomal storage disorder with a neurodegenerative course that occurs because of the deficiency of the beta-galactocerebrosidase (GALC) enzyme activity. The genetic basis of Krabbe disease consists of biallelic mutations in the GALC gene, but the genetic spectrum in the Turkish population is poorly defined. We aimed to present a Turkish case-series with infantile-onset Krabbe disease, define the clinical and molecular findings and compare the genetic spectrum with the mutations previously reported in the literature.