IEMbase 0289: GALC-related Beta-galactosylceramidase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 289 |
| Nosology | 20.1.08.02 |
| Gene | GALC |
| External IDs | OMIM:245200; ORPHA:206448 |
| Generated mapping | UNMAPPED; weak candidate Krabbe_Disease.yaml |
| Candidate DisMech targets | Krabbe_Disease.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents Krabbe disease / globoid cell leukodystrophy due to GALC-related beta-galactosylceramidase deficiency. Inheritance is autosomal recessive, treatability is unknown, and prevalence is listed as 1:100,000.
The clinical rows emphasize infantile neurologic disease: ataxia in later onset rows, deafness, feeding difficulties, fever, irritability, neurologic deterioration, neuropathy, seizures, and spasticity. Biochemical rows list elevated CSF protein and increased serum lysogalactosylceramide. The treatment section includes hematopoietic stem cell transplant.
DisMech phenotype coverage
Krabbe_Disease.yaml is the correct local target despite the generated
UNMAPPED status. The local entry models GALC deficiency,
galactosylsphingosine/psychosine accumulation, oligodendrocyte and Schwann-cell
toxicity, demyelination, neuroinflammation, and the canonical psychosine
toxicity model, while also discussing psychosine-independent disease biology.
Local phenotypes include leukodystrophy, spasticity, peripheral neuropathy, irritability in infancy, seizures, developmental regression, optic atrophy, and feeding difficulties. Local biochemical entries include psychosine (galactosylsphingosine) and GALC enzyme activity. Treatments include hematopoietic stem cell transplantation, investigational gene therapy, supportive care, avoidance of disease-accelerating agents, and investigational substrate reduction.
Concordance and completeness
Judgement: false negative mapping; resolve to Krabbe_Disease.yaml.
IEMbase and DisMech agree on GALC/Krabbe disease identity, autosomal recessive inheritance, lysogalactosylceramide/psychosine biology, infantile irritability, feeding difficulty, neurologic deterioration, neuropathy, seizures, spasticity, and HSCT. DisMech is much richer mechanistically, especially for psychosine, glial toxicity, demyelination, biomarker use, and investigational treatment directions.
IEMbase adds review prompts for deafness, fever, ataxia in later-onset disease, and elevated CSF protein. Its lysogalactosylceramide row is concordant with the local psychosine biomarker and could be cross-named more explicitly if future biochemical cleanup is done.
Curation actions
- Resolve this record to
Krabbe_Disease.yaml. - Treat the generated weak candidate as the real target; the low score is a mapping miss.
- Review deafness, fever, ataxia, and CSF protein for possible local phenotype or biomarker enrichment.