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Article

Insights into the Pathogenesis and Treatment of Krabbe Disease.

Pediatric endocrinology reviews : PER - 1 Jun 2016

Bongarzone Ernesto Roque, Escolar Maria Luisa, Gray Steven James, Kafri Tal, Vite Charles Herman, Sands Mark Steven

Abstract excerpt

Krabbe disease (globoid cell leukodystrophy, GLD) is an inherited disease caused by a deficiency in the lysosomal enzyme galactocerebrosidase (GALC). The major galactosylated lipid degraded by GALC is galactosylceramide. However, GALC is also responsible for the degradation of galactosylsphingosine (psychosine), a highly cytotoxic glycolipid. It has been hypothesized that GALC-deficiency leads to psychosine...

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Identifiers

PMID: 27491217

Genes

GALC

Provenance

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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