KRABBE DISEASE

General Information (adopted from Orphanet):

Synonyms, Signs: GALC DEFICIENCY
GLOBOID CELL LEUKOENCEPHALOPATHY
GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY
GALACTOCEREBROSIDASE DEFICIENCY
GLOBOID CELL LEUKODYSTROPHY
GLD
GCL
Number of Symptoms 31
OrphanetNr:
OMIM Id: 245200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000618) Blindness 124 / 7739
2
(HPO:0000639) Nystagmus 555 / 7739
3
(HPO:0007928) Abnormal flash visual evoked potentials 2 / 7739
4
(HPO:0000648) Optic atrophy 238 / 7739
5
(HPO:0000365) Hearing impairment 539 / 7739
6
(HPO:0002922) Increased CSF protein 27 / 7739
7
(HPO:0001250) Seizures 1245 / 7739
8
(HPO:0011096) Peripheral demyelination 28 / 7739
9
(HPO:0002376) Developmental regression 74 / 7739
10
(HPO:0002353) EEG abnormality 188 / 7739
11
(HPO:0001268) Mental deterioration 88 / 7739
12
(HPO:0002333) Motor deterioration 7 / 7739
13
(HPO:0006958) Abnormal auditory evoked potentials 12 / 7739
14
(HPO:0000762) Decreased nerve conduction velocity 36 / 7739
15
(HPO:0007141) Sensorimotor neuropathy 27 / 7739
16
(HPO:0002191) Progressive spasticity 12 / 7739
17
(HPO:0002013) Vomiting 191 / 7739
18
(HPO:0001508) Failure to thrive 454 / 7739
19
(HPO:0002180) Neurodegeneration 31 / 7739
20
(OMIM) Galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts 1 / 7739
21
(HPO:0000238) Hydrocephalus 278 / 7739
22
(OMIM) Hyperirritability 2 / 7739
23
(OMIM) Decerebrate posturing 1 / 7739
24
(OMIM) Hypotonia in later stages 1 / 7739
25
(OMIM) Hyperactive deep tendon reflexes in early stage 1 / 7739
26
(OMIM) Hypertonia in early stage 1 / 7739
27
(OMIM) 'Globoid multinucleated cells' in brain tissue 1 / 7739
28
(OMIM) Loss of myelin and oligodendroglia 1 / 7739
29
(OMIM) Diffuse cerebral atrophy on CT and MRI 1 / 7739
30
(OMIM) Hypersensitive to stimuli 1 / 7739
31
(OMIM) Diffuse demyelinating neuropathy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, ...
Clinical Description OMIM - Infantile Form

Hofman et al. (1987) described cherry red spots in an infant with Krabbe disease who died at age 18 months. Spots were subtle but evident at age 13 months and became prominent at ...

Genotype-Phenotype Correlations OMIM De Gasperi et al. (1996) noted that it was not always possible to make conclusions about the phenotype from the genotype. Most difficult to explain was the phenotype of 5 late-onset patients who carried on both alleles mutations ...
Molecular genetics OMIM Sakai et al. (1994) identified homozygosity for a nonsense mutation in the GALC gene (606890.0001) in a patient with typical Krabbe disease.

Rafi et al. (1995) analyzed the GALC gene in 2 patients with infantile Krabbe ...

Population genetics OMIM In a study in Catania in Sicily, Fiumara et al. (1990) found that 7 of 10 cases seen in a 12-year period were of the late infantile form, suggesting an unusually high frequency of the gene in Sicily. ...
Diagnosis GeneReviews Individuals with the infantile form of Krabbe disease can present with any or all of the following features:...
Clinical Description GeneReviews Approximately 85%-90% of individuals with Krabbe disease have the infantile form presenting with extreme irritability, spasticity, and developmental delay before age six months. The remaining 10%-15% have onset between age six months and the seventh decade....
Genotype-Phenotype Correlations GeneReviews No consistent correlation has been observed between age of onset and residual GALC enzyme activity measured in leukocytes or cultured skin fibroblasts....
Differential Diagnosis GeneReviews A history of normal development for the first few months after birth followed by psychomotor deterioration differentiates Krabbe disease from non-progressive CNS disorders of congenital or perinatal origin. Differentiation of Krabbe disease from other degenerative diseases is often difficult. Individuals of any age with progressive deterioration of the central or peripheral nervous systems should be tested for Krabbe disease. ...
Management GeneReviews To establish the extent of disease in an individual diagnosed with Krabbe disease:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....