Enzyme or protein defect
Galactocerebrosidase
Accumulates or becomes deficient
Galactocerebroside, psychosine
Key features
Optic atrophy, peripheral neuropathy, globoid cells, developmental regression
Management
HSCT if presymptomatic
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · fetched just now · sorted by publication date
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1
Antimicrobial proteins regulating neuroinflammation.
Bhusal A, Lee WH, Suk K. · 2026-01-05
open access unreviewed -
2
Globoid cell leukodystrophy (Krabbe disease).
Sinkó G, Dénes E, Farkas G, Tompa M, Kálmán B. · 2026-07-01
unreviewed -
3
Correction: Long-term neurological outcome after hematopoietic stem cell transplant in juvenile Krabbe disease.
Ardissone A, Ferrera G, Bonanomi S, Farina L, Ciano C, Nucera S, Moscatelli M, Venerando A, Patrini M, Sebast… · 2026-07-07
unreviewed -
4
Validating a Human Cell Model of Null Galactosylceramidase (GALC) Enzyme Activity That Recapitulates Krabbe Disease.
Starosta RT, Khatoon N, Roberts MS, Le SQ, Austin G, Cui X, Strout G, Schmidt RE, Jiang X, Sands MS, Dickson … · 2026-07-01
unreviewed -
5
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.
Kell P, Mishra S, D'Souza P, Tifft CJ, Dietzen DJ, Lasio LD, Carson JP, Hong X, Schiffmann R, Ledesma MD, Tay… · 2026-05-17
open access unreviewed -
6
Nano-Based Therapeutics in Rare Disease Management: Current Perspectives, Challenges, and Unmet Needs.
Sahoo A, Altemani FH, Alsaidan OA, Alsenani F, Aodah A, Alrobaian M, Almalki WH, Almujri SS, Lal JA, Singh J,… · 2026-06-24
unreviewed -
7
Vigabatrin-Associated Brain Abnormalities on MRI in a Patient with PCDH19-Clustering Epilepsy
Apanasenko O, Głodek-Brzozowska E, Guz P, Łobodzińska A, Perenc L. · 2026-06-01
open access unreviewed -
8
Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes.
Courtney E, Isenberg SL, Lim T, Pickens CA, Lee R, Cuthbert C, Petritis K. · 2026-06-09
open access unreviewed -
9
Pediatrician involvement in communicating positive newborn screening results for Krabbe disease: barriers, facilitators, and ideas for interventions.
Kirkpatrick L, Friel E, Muniz G, Chang JC, Rajan DS. · 2026-06-17
unreviewed -
10
Assessment of Enteral Baclofen Prescribing Practices for Infants With Hypertonia.
DiTaranto HE, Moore A, Kendsersky R, Zook J, Katz E, Evans SH, King JM. · 2026-06-08
unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.