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Task B-009 · Type B — Disease → gene association

Which gene is deficient in Krabbe disease and what enzyme does it encode?

Difficulty
easy
Rarity stratum
sparse
Evidence type
review + primary_research consensus
MONDO ID
MONDO:0009499
Curator notes

None material — GALC/galactocerebrosidase (also called galactosylceramidase/beta-galactosylceramidase in different documents) association is uniform; an entity-linking system must resolve these synonymous enzyme names.

Generation outcome

Abstained
No
Abstention correct
Yes
Gold in retrieved
0.00
Generation cost
$0.000365
Claims
2
Supported
2
Contradicted
0
Unverifiable
0

Gold documents (3)

  • Evidence and Recommendation for Infantile Krabbe Disease Newborn Screening.
    pubmed:40074005not retrievedsource
  • Globoid cell leukodystrophy (Krabbe disease).
    pubmed:42554324not retrievedsource
  • Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease.
    pubmed:40305757not retrievedsource

Retrieved documents (6)

  • Krabbe's disease; A rare case report.
    pubmed:36272395
  • Clinical and molecular findings in 6 Turkish cases with Krabbe disease.
    pubmed:35286032
  • Combined saposin deficiency: A rare occurrence.
    pubmed:36969110
  • Neuroglial Pathophysiology of Leukodystrophies.
    pubmed:40500501
  • Newborn screening for Krabbe disease in New York State: the first eight years' experience.
    pubmed:26795590
  • Efficacy and Safety of a Krabbe Disease Gene Therapy.
    pubmed:35333110

Generated claims (2)

supportedconfidence 0.95

The gene deficient in Krabbe disease is GALC.

pubmed:35286032pubmed:35333110pubmed:40500501
supportedconfidence 0.95

The GALC gene encodes the enzyme beta-galactocerebrosidase (GALC).

pubmed:35286032pubmed:35333110pubmed:40500501