Results 1 to 10 of about 612,233 (251)

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.
Gianluca Damonte, Annalisa Salis, Enrico Millo   +2 more
exaly   +7 more sources

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.
Nicola Longo, R Mao
exaly   +7 more sources

Epigenetic alterations in creatine transporter deficiency: a new marker for dodecyl creatine ester therapeutic efficacy monitoring [PDF]

Frontiers in Neuroscience
Creatine transporter deficiency (CTD) is an X-linked disease caused by mutations in the Slc6a8 gene. The impaired creatine uptake in the brain leads to developmental delays with intellectual disability.
Aloise Mabondzo, Lea Broca-Brisson
exaly   +7 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   +9 more sources

Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review [PDF]

Brain Sciences, 2023
(1) Background: X-linked creatine transporter deficiency (CTD) (OMIM 300036) is a rare group of inherited metabolic disorders characterized by global developmental delay/intellectual disability (GDD/ID), seizures, autistic behavior, and movement ...
Sanqing Xu
exaly   +5 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   +3 more sources

The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome [PDF]

Frontiers in Synaptic Neuroscience, 2020
Creatine provides cells with high-energy phosphates for the rapid reconstitution of hydrolyzed adenosine triphosphate. The eponymous creatine transporter (CRT1/SLC6A8) belongs to a family of solute carrier 6 (SLC6) proteins.
Sonja Sucic, Michael Freissmuth, Ali El-Kasaby   +2 more
exaly   +5 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   +3 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   +3 more sources

Oxidative phosphorylation in creatine transporter deficiency [PDF]

NMR in Biomedicine, 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.
Fady Hannah-Shmouni, Kim Cecil, Forbes D Porter   +2 more
exaly   +5 more sources