Value of magnetic resonance spectroscopy for diagnosis of creatine deficiency syndrome
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Tarih
2021
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Georg Thieme Verlag KG
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Creatine deficiency syndromes are congenital metabolic diseases characterized by decreased cerebral creatine levels as a result of disorders in creatine synthesis and transport. Therefore, magnetic resonance spectroscopy is a valuable tool for diagnosis. This disease can be explained by congenital disorders occurring in three forms at different stages of the creatine metabolic pathway. Two of disorders arise autosomal recessively in creatine biosynthesis, arginine-glycine amidinotransferase, and guanidinoacetate methyltransferase enzyme deficiency. The third disorder occurs as a result of an SLC6A8 variant in the form of creatine carrier protein deficiency. In this article, a patient with SLC6A8 carrier deficiency is presented.
Açıklama
WOS:000633691200001
Anahtar Kelimeler
Creatine, Deficiency, Brain, SLC6A8, MRS
Kaynak
Journal of Pediatric Neurology
WoS Q Değeri
N/A
Scopus Q Değeri
Q4
Cilt
Early Access
Sayı
Künye
Şimşek, S., Hattapoğlu, S. ve Ekici, F. (2021). Value of magnetic resonance spectroscopy for diagnosis of creatine deficiency syndrome. Journal of Pediatric Neurology, Early Access.
