creatine transporter deficiency
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
creatine transport
|
| gptkbp:affectsMostly |
males
|
| gptkbp:alsoKnownAs |
SLC6A8 deficiency
|
| gptkbp:category |
inborn error of metabolism
|
| gptkbp:cause |
cerebral creatine deficiency
|
| gptkbp:diagnosedBy |
genetic testing
magnetic resonance spectroscopy |
| gptkbp:firstDescribed |
2001
|
| https://www.w3.org/2000/01/rdf-schema#label |
creatine transporter deficiency
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:mutationAssociatedWith |
SLC6A8 gene
|
| gptkbp:notResponsiveTo |
oral creatine supplementation
|
| gptkbp:OMIM |
300036
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
intellectual disability
seizures speech delay autistic behaviors |
| gptkbp:treatment |
symptomatic management
no cure |
| gptkbp:bfsParent |
gptkb:SLC6A8
|
| gptkbp:bfsLayer |
7
|