Metachromatic leukodystrophy
GPTKB entity
Statements (41)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
leukodystrophy lysosomal storage disease |
| gptkbp:affects |
central nervous system
peripheral nervous system |
| gptkbp:biochemicalDefect |
accumulation of sulfatides
deficiency of arylsulfatase A |
| gptkbp:category |
neurological disorder
rare disease |
| gptkbp:causedBy |
mutation in ARSA gene
mutation in PSAP gene |
| gptkbp:diagnosedBy |
MRI
genetic testing enzyme assay |
| gptkbp:firstDescribed |
1925
|
| gptkbp:hasOrphanetID |
ORPHA:46
|
| https://www.w3.org/2000/01/rdf-schema#label |
Metachromatic leukodystrophy
|
| gptkbp:ICD-10_code |
E75.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D007899
|
| gptkbp:namedAfter |
metachromasia (staining property)
|
| gptkbp:OMIM |
250100
|
| gptkbp:onset |
adult form
infantile form juvenile form |
| gptkbp:prevalence |
1 in 40,000 to 1 in 160,000
|
| gptkbp:prognosis |
progressive and fatal
|
| gptkbp:riskFactor |
consanguinity
|
| gptkbp:symptom |
behavioral changes
cognitive decline muscle weakness vision loss seizures difficulty walking progressive loss of motor function |
| gptkbp:treatment |
supportive care
gene therapy (experimental) hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:MLD
gptkb:Lysosomes |
| gptkbp:bfsLayer |
6
|