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- Creatine_transporter_defect abstract "Creatine transporter defect (CTD) is an X-linked disorder of creatine metabolism caused by defective transport of creatine into the brain. The condition was initially described in reports in 2001. Hemizygous males with this condition show intellectual disability, speech delay, seizures, and behavioural abnormalities. Heterozygous females can have varying symptoms. CTD is caused by mutations in SLC6A8, located at Xq28. Clinically, it resembles the other forms of cerebral creatine deficiencies, L-arginine:glycine amidinotransferase deficiency and guanidinoacetate methyltransferase deficiency.".
- Creatine_transporter_defect diseasesdb "34691".
- Creatine_transporter_defect omim "300352".
- Creatine_transporter_defect thumbnail Creatine_neutral.png?width=300.
- Creatine_transporter_defect wikiPageID "41103769".
- Creatine_transporter_defect wikiPageRevisionID "584520342".
- Creatine_transporter_defect caption Creatine.
- Creatine_transporter_defect diseasesdb "34691".
- Creatine_transporter_defect genereviewsname "Creatine Deficiency Syndromes".
- Creatine_transporter_defect genereviewsnbk "NBK3794".
- Creatine_transporter_defect name "Creatine transporter defect".
- Creatine_transporter_defect omim "300352".
- Creatine_transporter_defect subject Category:Genetic_disorders.
- Creatine_transporter_defect subject Category:X-linked_recessive_disorders.
- Creatine_transporter_defect type Disease.
- Creatine_transporter_defect type Situation.
- Creatine_transporter_defect comment "Creatine transporter defect (CTD) is an X-linked disorder of creatine metabolism caused by defective transport of creatine into the brain. The condition was initially described in reports in 2001. Hemizygous males with this condition show intellectual disability, speech delay, seizures, and behavioural abnormalities. Heterozygous females can have varying symptoms. CTD is caused by mutations in SLC6A8, located at Xq28.".
- Creatine_transporter_defect label "Creatine transporter defect".
- Creatine_transporter_defect sameAs m.0zbz05p.
- Creatine_transporter_defect sameAs Q17084842.
- Creatine_transporter_defect sameAs Q17084842.
- Creatine_transporter_defect wasDerivedFrom Creatine_transporter_defect?oldid=584520342.
- Creatine_transporter_defect depiction Creatine_neutral.png.
- Creatine_transporter_defect isPrimaryTopicOf Creatine_transporter_defect.
- Creatine_transporter_defect name "Creatine transporter defect".