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
Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China.
Mu J, Sun M, Li Y, Li P, Zou H. · 2026-07-09
open access unreviewed -
2
Antimicrobial proteins regulating neuroinflammation.
Bhusal A, Lee WH, Suk K. · 2026-01-05
cited 1× open access unreviewed -
3
The thymus gland is a target and maintainer of amyotrophic lateral sclerosis pathophysiology.
Lemos JP, Stockholm D, Dinatale B, Chaves AS, Pezet S, Frias Carvalho V, Pérez AR, Mendes-da-Cruz DA, Savino … · 2026-09-06
open access unreviewed -
4
Proteomic Signatures of Noise-Induced Hearing Loss in the Mouse Cochlea.
Batissoco AC, Alencar-Coutinho D, Ferreira-Scatone AC, Diogo-Cavassana S, Oiticica J, Lezirovitz K, Bento RF. · 2026-10-01
open access unreviewed -
5
Myelin Impairment and Regeneration in the Central Nervous System: Molecular Mechanisms, Diseases, and Prospective Therapeutic Targets.
Huang L, Cheng P, Liu G, Xiang Y, Hong Z, Le W. · 2026-09-20
open access unreviewed -
6
Characterization of hematopoietic stem cell-derived microglia-like cells in nonhuman primates.
Petty NE, Wolf CB, Kanestrom G, Mendoza M, Swing K, Murnane R, Tong A, Starrs M, Fields E, Madhu R, Nelson V,… · 2026-10-01
open access unreviewed -
7
Genetic Etiologies of Dystonia with Anarthria/Aphonia.
Ménétrey A, Rayco E, Abarghouei ME, Fox SH, Lang AE, Ibrahim GM, Gorodetsky C, Ganos C. · 2026-09-30
open access unreviewed -
8
Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications
Nkenguye W, Suleman M, Lodhia J. · 2026-09-23
open access unreviewed -
9
Inpatient Deaths in Pediatric Leukodystrophies.
Hart HS, Vordos KL, Flood CT, Isakson DJ, Novoa A, Bonkowsky JL. · 2026-08-30
unreviewed -
10
Selective inhibition of TLR2 stimulates the maturation of oligodendroglial progenitor cells to oligodendrocytes.
Chakrabarti S, Jana M, Gorai S, Pahan K. · 2026-09-02
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.