A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism
dc.contributor.author | Aydin, Halil Ibrahim | |
dc.contributor.author | Sonmez, Fatma Mujgan | |
dc.contributor.orcID | 0000-0001-7994-4394 | en_US |
dc.contributor.pubmedID | 31559727 | en_US |
dc.date.accessioned | 2020-11-09T19:04:42Z | |
dc.date.available | 2020-11-09T19:04:42Z | |
dc.date.issued | 2019 | |
dc.description.abstract | Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder of creatine biosynthesis. Here, we report 9 and 10-year-old cousins with GAMT deficiency caused by a novel mutation who both exhibited neurodevelopmental retardation, seizures, behavioral problems, and autism that began during early infancy. The patients were diagnosed as having only autism and followed for years without a specific diagnosis although they had very low levels of serum creatinine for several times. A novel nonsense mutation in the GAMT gene that caused cessation of synthesis of the protein encoded by this gene was identified in these patients. GAMT deficiency is a treatable inborn error of metabolism and should be considered for all patients with hypotonia, developmental delay, seizures and autism, particularly if low serum creatinine levels are observed. | en_US |
dc.identifier.endpage | 96 | en_US |
dc.identifier.issn | 0041-4301 | en_US |
dc.identifier.issue | 1 | en_US |
dc.identifier.scopus | 2-s2.0-85072709548 | en_US |
dc.identifier.startpage | 92 | en_US |
dc.identifier.uri | http://www.turkishjournalpediatrics.org/uploads/pdf_TJP_1943.pdf | |
dc.identifier.uri | http://hdl.handle.net/11727/5019 | |
dc.identifier.volume | 61 | en_US |
dc.identifier.wos | 000487855900014 | en_US |
dc.language.iso | eng | en_US |
dc.relation.isversionof | 10.24953/turkjped.2019.01.014 | en_US |
dc.relation.journal | TURKISH JOURNAL OF PEDIATRICS | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | creatine deficiency syndromes | en_US |
dc.subject | guanidinoacetate methyltransferase | en_US |
dc.subject | autism | en_US |
dc.subject | epilepsy | en_US |
dc.title | A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism | en_US |
dc.type | article | en_US |