Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:abbreviation |
gptkb:Metachromatic_leukodystrophy
|
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:causedBy |
mutation in ARSA gene
mutation in PSAP gene |
| gptkbp:diagnosedBy |
MRI
genetic testing enzyme assay |
| gptkbp:firstDescribed |
1920s
|
| gptkbp:frequency |
rare
|
| gptkbp:fullName |
gptkb:Metachromatic_leukodystrophy
|
| https://www.w3.org/2000/01/rdf-schema#label |
MLD
|
| gptkbp:ICD-10_code |
E75.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D007899
|
| gptkbp:OMIM |
250100
|
| gptkbp:onset |
childhood
adulthood |
| gptkbp:relatedTo |
leukodystrophy
lysosomal storage disease |
| gptkbp:symptom |
gptkb:dementia
muscle weakness vision loss seizures progressive loss of motor skills |
| gptkbp:treatment |
supportive care
gene therapy hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:IPv6
gptkb:Air_Moldova gptkb:Netherlands_Naval_Aviation_Service |
| gptkbp:bfsLayer |
5
|