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Task A-009 · Type A — Disease → phenotype
What is the clinical presentation of infantile Krabbe disease?
Difficulty
easy
Rarity stratum
sparse
Evidence type
primary_research + review
MONDO ID
MONDO:0009499
Curator notes
Krabbe disease has infantile, juvenile, and adult-onset forms (see pubmed:41414721 for adult presentation) — this task is scoped specifically to the infantile form, the most common and best-characterized in the corpus.
Generation outcome
Abstained
No
Abstention correct
Yes
Gold in retrieved
2.00
Generation cost
$0.000491
Claims
4
Supported
4
Contradicted
0
Unverifiable
0
Gold documents (2)
- Newborn screening for Krabbe disease in New York State: the first eight years' experience.
- Krabbe disease--clinical profile.
Retrieved documents (6)
- Globoid cell leukodystrophy (Krabbe disease).pubmed:42554324
- Krabbe disease--clinical profile.pubmed:10992329gold
- Clinical and molecular findings in 6 Turkish cases with Krabbe disease.pubmed:35286032
- Benefits of newborn screening and hematopoietic cell transplant in infantile Krabbe disease.pubmed:35042231
- Newborn screening for Krabbe disease in New York State: the first eight years' experience.pubmed:26795590gold
- Infantile Krabbe disease (0-12 months), progression, and recommended endpoints for clinical trials.pubmed:39499628
Generated claims (4)
supportedconfidence 0.90
Infantile Krabbe disease presents with neurodegeneration, seizures, fever, irritability, developmental delay, feeding difficulties, spasticity, and reflux.
pubmed:10992329pubmed:39499628pubmed:5286032
supportedconfidence 0.80
MRI findings in infantile Krabbe disease may show white matter abnormalities.
pubmed:10992329pubmed:35286032
supportedconfidence 0.90
Nerve conduction studies in infantile Krabbe disease often reveal abnormalities.
pubmed:10992329
supportedconfidence 0.90
Infantile Krabbe disease is rapidly progressive and typically leads to death within 2-3 years unless treated early with hematopoietic stem cell transplantation.
pubmed:42554324pubmed:35286032