Krabbe Disease — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Novel GALC Deletion and Paradoxical Optic Nerve Hypertrophy in Severe Infantile Krabbe Disease.
Sharma Yashu et al. — Neuropediatrics (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41638225/
- 2.
Spatially resolved lipids in a mouse brain model of globoid cell leukodystrophy via IR-MALDESI MSI and parallel reaction monitoring MSI.
Hunter Sierra N et al. — Analytical and bioanalytical chemistry (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41578040/
- 3.
Sphingolipid-neutralizing molecular therapy reduces psychosine cytotoxicity in Krabbe disease.
Begum Salma et al. — iScience (20 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41743237/
- 4.
Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.
Asgari Parnia et al. — BMC neurology (27 February 2026)
https://pubmed.ncbi.nlm.nih.gov/41761111/
- 5.
Gene therapy for Krabbe disease: evidence from mouse and canine models.
Li Yang et al. — Gene (20 February 2026)
https://pubmed.ncbi.nlm.nih.gov/41381017/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Krabbe Disease
Krabbe disease is a rare lysosomal storage disorder caused by galactocerebrosidase (GALC) enzyme deficiency, causing rapid and fatal demyelination of the nervous system in infants. Hematopoietic stem cell transplantation can slow progression when performed before symptom onset, making newborn screening critical.
Most Recent Research
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.