The clinical syndrome of creatine transporter deficiency

2003 ◽  
pp. 45-48 ◽  
Author(s):  
Ton J. deGrauw ◽  
Kim M. Cecil ◽  
Anna W. Byars ◽  
Gajja S. Salomons ◽  
William S. Ball ◽  
...  
Keyword(s):  
Clinical Syndrome ◽  
Creatine Transporter ◽  
Creatine Transporter Deficiency ◽  
Transporter Deficiency

scholarly journals A novel mouse model of creatine transporter deficiency

F1000Research ◽  
2015 ◽  
Vol 3 ◽  
pp. 228
Author(s):  
Laura Baroncelli ◽  
Maria Grazia Alessandrì ◽  
Jonida Tola ◽  
Elena Putignano ◽  
Martina Migliore ◽  
...  
Keyword(s):  
Mouse Model ◽  
Murine Model ◽  
Deficiency Syndrome ◽  
Speech Impairment ◽  
Behavioral Disturbances ◽  
Creatine Transporter ◽  
Creatine Transporter Deficiency ◽  
Creatine Deficiency ◽  
Creatine Deficiency Syndrome ◽  
Transporter Deficiency

Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement  and behavioral disturbances, language and speech impairment ( OMIM #300352).CCDS1 is still an untreatable pathology that can be very invalidating for patients and caregivers. Only two murine models of CCDS1, one of which is an ubiquitous knockout mouse, are currently available to study the possible mechanisms underlying the pathologic phenotype of CCDS1 and to develop therapeutic strategies. Given the importance of validating phenotypes and efficacy of promising treatments in more than one mouse model we have generated a new murine model of CCDS1 obtained by ubiquitous deletion of 5-7 exons in the Slc6a8 gene. We showed a remarkable Cr depletion in the murine brain tissues and cognitive defects, thus resembling the key features of human CCDS1. These results confirm that CCDS1 can be well modeled in mice. This CrT−/y murine model will provide a new tool for increasing the relevance of preclinical studies to the human disease.

scholarly journals Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome

2019 ◽  
Vol 161 ◽  
pp. 107572 ◽  
Author(s):  
Ali El-Kasaby ◽  
Ameya Kasture ◽  
Florian Koban ◽  
Matej Hotka ◽  
Hafiz M.M. Asjad ◽  
...  
Keyword(s):  
Deficiency Syndrome ◽  
Creatine Transporter ◽  
Creatine Transporter Deficiency ◽  
Transporter Deficiency

scholarly journals Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder

PEDIATRICS ◽  
2020 ◽  
Vol 146 (5) ◽  
pp. e20193460
Author(s):  
Yılmaz Yıldız ◽  
Rahşan Göçmen ◽  
Ahmet Yaramış ◽  
Turgay Coşkun ◽  
Göknur Haliloğlu
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Creatine Transporter ◽  
Creatine Transporter Deficiency ◽  
Transporter Deficiency

scholarly journals Creatine transporter deficiency leads to increased whole body and cellular metabolism

Amino Acids ◽  
2016 ◽  
Vol 48 (8) ◽  
pp. 2057-2065 ◽  
Author(s):  
Marla K. Perna ◽  
Amanda N. Kokenge ◽  
Keila N. Miles ◽  
Kenea C. Udobi ◽  
Joseph F. Clark ◽  
...  
Keyword(s):  
Cellular Metabolism ◽  
Whole Body ◽  
Creatine Transporter ◽  
Creatine Transporter Deficiency ◽  
Transporter Deficiency

Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

2007 ◽  
Vol 40 (16-17) ◽  
pp. 1328-1331 ◽  
Author(s):  
Angela Arias ◽  
Marc Corbella ◽  
Carmen Fons ◽  
Angela Sempere ◽  
Judit García-Villoria ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Creatine Transporter ◽  
Creatine Transporter Deficiency ◽  
Transporter Deficiency ◽  
Metabolite Screening

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

2018 ◽  
Vol 33 (3) ◽  
pp. 875-884 ◽  
Author(s):  
Theodora U. J. Bruun ◽  
Sarah Sidky ◽  
Anabela O. Bandeira ◽  
Francoise-Guillaume Debray ◽  
Can Ficicioglu ◽  
...  
Keyword(s):  
Cohort Study ◽  
Treatment Outcome ◽  
Retrospective Cohort Study ◽  
Retrospective Cohort ◽  
Creatine Transporter ◽  
Creatine Transporter Deficiency ◽  
Transporter Deficiency
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