Screening for creatine transporter deficiency in autism spectrum disorder: a pilot study
Turkish Journal of Biochemistry, cilt.49, sa.6, ss.784-791, 2024 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 49 Sayı: 6
- Basım Tarihi: 2024
- Doi Numarası: 10.1515/tjb-2024-0114
- Dergi Adı: Turkish Journal of Biochemistry
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.784-791
- Anahtar Kelimeler: autism spectrum disorder, creatine transporter deficiency, cerebral creatine deficiency, liquid chromatography tandem mass spectrometry
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Objectives: Investigation of inherited metabolic disorders in autism spectrum disorder (ASD) is a matter of debate. X-linked creatine transporter deficiency is among the metabolic disorders which may present predominantly with features of ASD and intellectual disability. Here, we aimed to screen for creatine transporter deficiency in boys with ASD at a university hospital in Turkey. Methods: Random urine samples were collected from males with ASD (age 3–18 years); urine creatinine, creatine and guanidinoacetate levels were determined by liquid chromatography – tandem mass spectrometry. Demographic and clinical data were obtained via history and physical examination. The primary outcome was the diagnosis of creatine transporter deficiency (elevated urinary creatine:creatinine ratio). The diagnosis of guanidinoacetate methyltransferase deficiency and the parameters associated with the creatine metabolites were secondary outcomes. Results: Forty seven boys were enrolled, 21.3 and 19.1 % of whom had gross motor delay or paroxysmal abnormalities. 55.3 and 51.1 % patients had low urine creatine and guanidinoacetate levels, respectively, and no cases of creatine transporter deficiency or guanidinoacetate methyltransferase deficiency were identified. Age at ASD diagnosis, age at speech onset, otic or ocular dysmorphic features and psychotropic medications were weakly associated with creatine metabolites. Conclusions: We found no evidence to support routine screening of boys with ASD for creatine transporter deficiency, but the small number of participants is a limitation. Associates of urinary creatine metabolites were not considered to be clinically significant. High proportion of patients with low creatine and guanidinoacetate levels may be due to nutritional issues, and requires further study.