A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism
Özet
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.
Bağlantı
http://www.turkishjournalpediatrics.org/uploads/pdf_TJP_1943.pdfhttp://hdl.handle.net/11727/5019
Koleksiyonlar
- PubMed Açık Erişimli Yayınlar [1472]
- PubMed İndeksli Yayınlar Koleksiyonu [2382]
- Scopus İndeksli Yayınlar Koleksiyonu [3057]
- Tıp Fakültesi / Faculty of Medicine [6039]
- TR-Dizin Açık Erişimli Yayınlar [896]
- TR-Dizin İndeksli Yayınlar Koleksiyonu [984]
- Wos Açık Erişimli Yayınlar [2402]
- Wos İndeksli Yayınlar Koleksiyonu [4123]