X-linked creatine deficiency syndrome: A novel mutation in creatine transporter geneSLC6A8

2002 ◽  
Vol 52 (2) ◽  
pp. 227-231 ◽  
Author(s):  
Alberto Bizzi ◽  
Marianna Bugiani ◽  
Gajja S. Salomons ◽  
Donald H. Hunneman ◽  
Isabella Moroni ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Deficiency Syndrome ◽  
Creatine Transporter ◽  
Creatine Deficiency ◽  
Creatine Deficiency Syndrome

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 A novel mouse model of creatine transporter deficiency

F1000Research ◽  
2014 ◽  
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.

Creatine Deficiency Syndrome due to X-linked Creatine Transporter Gene Defect

2009 ◽  
pp. 460-460
Author(s):  
Nils Peters ◽  
Martin Dichgans ◽  
Sankar Surendran ◽  
Josep M. Argilés ◽  
Francisco J. López-Soriano ◽  
...  
Keyword(s):  
Deficiency Syndrome ◽  
Transporter Gene ◽  
Gene Defect ◽  
Creatine Transporter ◽  
Creatine Deficiency ◽  
Creatine Deficiency Syndrome

scholarly journals X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome

2001 ◽  
Vol 68 (6) ◽  
pp. 1497-1500 ◽  
Author(s):  
Gajja S. Salomons ◽  
Silvy J.M. van Dooren ◽  
Nanda M. Verhoeven ◽  
Kim M. Cecil ◽  
William S. Ball ◽  
...  
Keyword(s):  
Deficiency Syndrome ◽  
Transporter Gene ◽  
Creatine Transporter ◽  
Creatine Deficiency ◽  
Creatine Deficiency Syndrome

scholarly journals Symptoms of creatine deficiency syndrome. Case report

2018 ◽  
Vol 27 (55) ◽  
pp. 63-67
Author(s):  
Anna Lemska ◽  
◽  
Marta Zawadzka ◽  
Małgorzata Lemka ◽  
Agnieszka Sawicka ◽  
...  
Keyword(s):  
Case Report ◽  
Deficiency Syndrome ◽  
Creatine Deficiency ◽  
Creatine Deficiency Syndrome

Value of Magnetic Resonance Spectroscopy for Diagnosis of Creatine Deficiency Syndrome

2021 ◽  
Author(s):  
Sadullah Şimşek ◽  
Salih Hattapoğlu ◽  
Faysal Ekici
Keyword(s):  
Magnetic Resonance ◽  
Magnetic Resonance Spectroscopy ◽  
Metabolic Diseases ◽  
Deficiency Syndrome ◽  
Resonance Spectroscopy ◽  
Congenital Disorders ◽  
Carrier Protein ◽  
The Third ◽  
Creatine Deficiency ◽  
Creatine Deficiency Syndrome

AbstractCreatine 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.

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