X-linked creatine transporter deficiency
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
inborn error of metabolism |
| gptkbp:affects |
brain
creatine transport |
| gptkbp:diagnosedBy |
gptkb:magnetic_resonance_spectroscopy_(MRS)
genetic testing |
| gptkbp:firstDescribed |
2001
|
| gptkbp:frequency |
more common in males
|
| https://www.w3.org/2000/01/rdf-schema#label |
X-linked creatine transporter deficiency
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:mutationAssociatedWith |
SLC6A8 gene
|
| gptkbp:OMIM |
300036
|
| gptkbp:otherName |
gptkb:CTD
Creatine transporter deficiency |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:autism_spectrum_disorder
intellectual disability seizures speech delay behavioral problems |
| gptkbp:treatment |
symptomatic management
no curative treatment |
| gptkbp:bfsParent |
gptkb:SLC6A8
gptkb:X-linked_intellectual_disability |
| gptkbp:bfsLayer |
7
|