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Abstract #3496

Creatine metabolism disorder leads to structural and physiological abnormalities in the brain of Creatine Transporter KO mice.

Devashish Das 1 , Chi-Un Choe 2 , Malte Stockebrand 2 , Andor Veltien 1 , Houshang AmiriDoumari 1 , Dirk Isbrandt 2 , and Arend Heerschap 1

1 Radboud University Medical Center, Nijmegen, Nijmegen, Netherlands, 2 Center for Molecular Neurobiology Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

In human, mutations in creatine transporter (CrT) gene can damage brain microstructure, and thereby corrupts its function. A variety of genetic and Magnetic resonance spectroscopic imaging (MRSI) tools are available for diagnosis of CrT patients. Despite which the onset of brain damage in human cannot be predicted. We independently developed CrT-KO mice for delineating those molecular and physiological mechanisms, which remain unexplained in previous MRI-studies on CrT patients.

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