Krabbe disease
E942551
autosomal recessive disease
inborn error of metabolism
leukodystrophy
lysosomal storage disease
neurodegenerative disease
rare disease
Krabbe disease is a rare, inherited neurodegenerative disorder that destroys the protective myelin sheath of nerve cells in the brain and nervous system, typically leading to severe developmental regression and early death in infancy or childhood.
Statements (60)
| Predicate | Object |
|---|---|
| instanceOf |
autosomal recessive disease
ⓘ
inborn error of metabolism ⓘ leukodystrophy ⓘ lysosomal storage disease ⓘ neurodegenerative disease ⓘ rare disease ⓘ |
| accumulatesSubstrate |
galactocerebroside
ⓘ
psychosine ⓘ |
| affectsCellType |
Schwann cells
NERFINISHED
ⓘ
oligodendrocytes ⓘ |
| affectsSystem |
central nervous system
ⓘ
peripheral nervous system ⓘ |
| belongsToPathway | sphingolipid metabolism ⓘ |
| biochemicalDefect | deficiency of galactocerebrosidase ⓘ |
| carrierFrequency | increased in certain isolated populations ⓘ |
| causedByMutationIn | GALC gene NERFINISHED ⓘ |
| causes |
cognitive decline
ⓘ
progressive neurodegeneration ⓘ severe motor impairment ⓘ |
| cellularFeature | presence of globoid cells in white matter ⓘ |
| diagnosticTest |
MRI of brain
ⓘ
measurement of GALC enzyme activity ⓘ molecular genetic testing of GALC gene ⓘ |
| geneLocation | chromosome 14q31 ⓘ |
| hasSynonym |
galactosylceramide lipidosis
NERFINISHED
ⓘ
globoid cell leukodystrophy NERFINISHED ⓘ |
| ICD10 | E75.2 ⓘ |
| inheritancePattern | autosomal recessive ⓘ |
| management | supportive care ⓘ |
| modeOfInheritanceRisk | 25 percent recurrence risk for each pregnancy of carrier parents ⓘ |
| mostCommonForm | infantile Krabbe disease NERFINISHED ⓘ |
| MRICharacteristic | diffuse white matter abnormalities ⓘ |
| namedAfter | Knud Haraldsen Krabbe NERFINISHED ⓘ |
| newbornScreeningAvailableIn | some regions of the United States ⓘ |
| OMIMID | 245200 ⓘ |
| onset |
adult
ⓘ
infantile ⓘ juvenile ⓘ late-infantile ⓘ |
| OrphanetID | ORPHA:526 ⓘ |
| prevalence | approximately 1 in 100000 births ⓘ |
| primaryPathology |
demyelination
GENERATED
ⓘ
loss of myelin sheath GENERATED ⓘ |
| prognosis |
poor for infantile form
ⓘ
variable for later-onset forms ⓘ |
| symptom |
developmental regression
ⓘ
feeding difficulties ⓘ hearing loss ⓘ hypertonia ⓘ irritability ⓘ opisthotonus ⓘ peripheral neuropathy ⓘ seizures ⓘ spasticity ⓘ stiffness ⓘ vision loss ⓘ |
| treatment | hematopoietic stem cell transplantation ⓘ |
| treatmentTiming | most effective when performed presymptomatically ⓘ |
| typicalAgeOfOnsetInfantile | before 6 months of age GENERATED ⓘ |
| typicalSurvivalInfantile | before 2 years of age GENERATED ⓘ |
Referenced by (3)
Full triples — surface form annotated when it differs from this entity's canonical label.