← All tasks
Task D-009 · Type D — Disease → mechanism
By what biochemical mechanism does GALC deficiency lead to demyelination in Krabbe disease?
Difficulty
medium
Rarity stratum
sparse
Evidence type
review + primary_research
MONDO ID
MONDO:0009499
Curator notes
Psychosine (galactosylsphingosine) accumulation, not just galactocerebroside, is the specific toxic mediator per both gold documents — a shallow answer citing only "substrate accumulation" without naming psychosine would be incomplete relative to what the corpus actually supports.
Generation outcome
Abstained
No
Abstention correct
Yes
Gold in retrieved
2.00
Generation cost
$0.000500
Claims
3
Supported
3
Contradicted
0
Unverifiable
0
Gold documents (2)
- Globoid cell leukodystrophy (Krabbe disease).
- Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease.
Retrieved documents (6)
- Globoid cell leukodystrophy (Krabbe disease).pubmed:42554324gold
- Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease.pubmed:40305757gold
- Clinical and molecular findings in 6 Turkish cases with Krabbe disease.pubmed:35286032
- Newborn screening for Krabbe disease in New York State: the first eight years' experience.pubmed:26795590
- Infantile Krabbe disease (0-12 months), progression, and recommended endpoints for clinical trials.pubmed:39499628
- Efficacy and Safety of a Krabbe Disease Gene Therapy.pubmed:35333110
Generated claims (3)
supportedconfidence 0.90
GALC deficiency leads to the accumulation of psychosine and lactosylceramide (LacCer) in the brain.
pubmed:40305757pubmed:42554324
supportedconfidence 0.85
The accumulation of psychosine and LacCer triggers neuroinflammation and neurodegeneration.
pubmed:40305757pubmed:42554324
supportedconfidence 0.90
Accumulation of psychosine and LacCer results in demyelination.
pubmed:40305757pubmed:42554324