| dc.contributor.author | Aydin, Halil Ibrahim | |
| dc.date.accessioned | 2019-05-22T15:08:45Z | |
| dc.date.available | 2019-05-22T15:08:45Z | |
| dc.date.issued | 2018 | |
| dc.identifier.issn | 0019-6061 | |
| dc.identifier.uri | https://link.springer.com/content/pdf/10.1007%2Fs13312-018-1232-5.pdf | |
| dc.identifier.uri | http://hdl.handle.net/11727/3295 | |
| dc.description.abstract | Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism.
Two brothers with autism spectrum disorder were diagnosed with CTD at the ages of 17 and 12 years. Both were found to have a previously reported hemizygous p.408delF (c.1216_1218delTTC) deletion mutation.
Both patients were given creatine monohydrate, L-arginine, L-glycine and S-adenosylmethionine, which partially improved the behavioral problems.
Serum creatinine levels, creatine peak at brain MR spectroscopy or creatine/creatinine ratio in urine should be evaluated to identify CTD in children with autistic behavior and language disorders. | en_US |
| dc.language.iso | eng | en_US |
| dc.relation.isversionof | 10.1007/s13312-018-1232-5 | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.subject | Creatine deficiency syndrome | en_US |
| dc.subject | Inborn errors of metabolism | en_US |
| dc.subject | SLC6A8 | en_US |
| dc.title | Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder | en_US |
| dc.type | article | en_US |
| dc.relation.journal | INDIAN PEDIATRICS | en_US |
| dc.identifier.volume | 55 | en_US |
| dc.identifier.issue | 1 | en_US |
| dc.identifier.startpage | 67 | en_US |
| dc.identifier.endpage | 68 | en_US |
| dc.identifier.wos | 000427607500014 | en_US |
| dc.identifier.scopus | 2-s2.0-85043987126 | en_US |
| dc.contributor.pubmedID | 29396939 | en_US |
| dc.contributor.orcID | 0000-0001-7994-4394 | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | en_US |
