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Article

Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2017

Krägeloh-Mann Inge, Harzer Klaus, Rostásy Kevin, Beck-Wödl Stefanie, Bornemann Antje, Böhringer Judith, Bevot Andrea, Beck Verena, Merkel Gisela, Pechan Maria

Abstract excerpt

BACKGROUND: Krabbe disease (KD) is an inherited leukodystrophy due to a defect in the GALC gene which encodes the lysosomal galactosylceramide β-galactosidase (GALC). About two thirds of patients show the early onset form of KD dominated by cerebral demyelination leading to death in early infancy. Late onset forms include a spectrum of late infantile, juvenile and adult clinical courses. The deficiency of GALC...

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PMID: 28109651
DOI: 10.1016/j.ejpn.2016.12.012

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GALC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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