Journal of Pediatric Neurology
DOI: 10.1055/s-0041-1726311
Case Report

Value of Magnetic Resonance Spectroscopy for Diagnosis of Creatine Deficiency Syndrome

1  Department of Radiology, Medical School, Dicle University, Diyarbakir, Turkey
,
1  Department of Radiology, Medical School, Dicle University, Diyarbakir, Turkey
,
1  Department of Radiology, Medical School, Dicle University, Diyarbakir, Turkey
› Author Affiliations

Abstract

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.



Publication History

Received: 04 December 2020

Accepted: 06 February 2021

Publication Date:
27 March 2021 (online)

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany