Results 1 to 10 of about 13,220 (172)

Creatine transporter deficiency: Novel mutations and functional studies [PDF]

Molecular Genetics and Metabolism Reports, 2016
X-linked cerebral creatine deficiency (MIM 300036) is caused by deficiency of the creatine transporter encoded by the SLC6A8 gene. Here we report three patients with this condition from Israel.
O. Ardon, M. Procter, R. Mao, N. Longo, Y.E. Landau, A. Shilon-Hadass, L.V. Gabis, C. Hoffmann, M. Tzadok, G. Heimer, S. Sada, B. Ben-Zeev, Y. Anikster   +12 more
doaj   +4 more sources

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency [PDF]

Orphanet Journal of Rare Diseases
Background Creatine transporter (CTD) and guanidinoacetate methyltransferase (GAMT) deficiencies are rare inborn errors of creatine metabolism, resulting in cerebral creatine deficiency.
Zahra Nasseri Moghaddam, Emily K. Reinhardt, Audrey Thurm, Beth K. Potter, Maureen Smith, Celeste Graham, Beth H. Tiller, Steven A. Baker, Deborah A. Bilder, Regina Bogar, Jacobus Britz, Rachel Cafferty, Daniel P. Coller, Ton J. DeGrauw, Vicky Hall, Gerald S. Lipshutz, Nicola Longo, Saadet Mercimek-Andrews, Judith S. Miller, Marzia Pasquali, Gajja S. Salomons, Andreas Schulze, Celine P. Wheaton, Kayla F. Williams, Sarah P. Young, Jasmine Li, Sofia Balog, Theresa Selucky, Sylvia Stöckler-Ipsiroglu, Heidi Wallis   +29 more
doaj   +6 more sources

Creatine transporter deficiency impairs stress adaptation and brain energetics homeostasis [PDF]

JCI Insight, 2021
The creatine transporter (CrT) maintains brain creatine (Cr) levels, but the effects of its deficiency on energetics adaptation under stress remain unclear.
Hong-Ru Chen, Xiaohui Zhang-Brotzge, Yury M. Morozov, Yuancheng Li, Siming Wang, Helen Heju Zhang, Irena S. Kuan, Elizabeth M. Fugate, Hui Mao, Yu-Yo Sun, Pasko Rakic, Diana M. Lindquist, Ton DeGrauw, Chia-Yi Kuan   +13 more
doaj   +5 more sources

A novel mouse model of creatine transporter deficiency [v1; ref status: indexed, http://f1000r.es/4f8] [PDF]

F1000Research, 2014
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 ...
Laura Baroncelli, Maria Grazia Alessandrì, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Cornelius Gross, Vincenzo Leuzzi, Giovanni Cioni, Tommaso Pizzorusso   +9 more
doaj   +9 more sources

Case report: Clinical and magnetic resonance spectroscopy presentation of a female severely affected with X-linked creatine transporter deficiency [PDF]

Radiology Case Reports, 2022
Creatine transporter deficiency is an X-linked genetic disorder caused by a variant in the SLC6A8 gene located on the X chromosome (Xq28). This condition varies in severity with features often including intellectual disabilities, speech delay, autistic ...
Katherine Morey, Barbara Hallinan, MD, PhD, Kim M. Cecil, PhD   +2 more
doaj   +2 more sources

Oxidative phosphorylation in creatine transporter deficiency. [PDF]

NMR Biomed, 2021
X‐linked creatine transporter deficiency (CTD) is one of the three types of cerebral creatine deficiency disorders. CTD arises from pathogenic variants in the X‐linked gene SLC6A8. We report the first phosphorus (31P) MRS study of patients with CTD, where both phosphocreatine and total creatine concentrations were found to be markedly reduced.
Li S, Bianconi S, van der Veen JW, Dang Do A, Stolinski J, Cecil KM, Hannah-Shmouni F, Porter FD, Shen J.   +8 more
europepmc   +4 more sources

Effects of Delivering Guanidinoacetic Acid or Its Prodrug to the Neural Tissue: Possible Relevance for Creatine Transporter Deficiency [PDF]

Brain Sciences, 2022
The creatine precursor guanidinoacetate (GAA) was used as a dietary supplement in humans with no adverse events. Nevertheless, it has been suggested that GAA is epileptogenic or toxic to the nervous system.
Enrico Adriano, Annalisa Salis, Gianluca Damonte, Enrico Millo, Maurizio Balestrino   +4 more
doaj   +2 more sources

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder [PDF]

Journal of Investigative Medicine High Impact Case Reports, 2023
Cerebral creatine deficiency syndromes (CCDS) are a rare group of inherited metabolic disorders (IMDs) that often present with nonspecific findings including global developmental delay (GDD), intellectual disability (ID), seizures, hypotonia, and ...
Christina G. Tise MD, PhD, Melinda J. Palma MD, Kristina P. Cusmano-Ozog MD, Dena R. Matalon MD   +3 more
doaj   +2 more sources

An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research [PDF]

Frontiers in Neuroscience
Over the last 15 years, significant progress has been made for Creatine Transporter Deficiency (CTD) patients, with increased awareness and visibility, better diagnosis, and improved care.
Carole Chehowah, Carole Chehowah, Audrey Mittelman, Vincent des Portes   +3 more
doaj   +2 more sources

A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism [PDF]

Scientific Reports, 2021
Creatine is an organic compound used as fast phosphate energy buffer to recycle ATP, important in tissues with high energy demand such as muscle or brain.
Lara Duran-Trio, Gabriella Fernandes-Pires, Dunja Simicic, Jocelyn Grosse, Clothilde Roux-Petronelli, Stephen J. Bruce, Pierre-Alain Binz, Carmen Sandi, Cristina Cudalbu, Olivier Braissant   +9 more
doaj   +2 more sources