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.
R Mao, Nicola Longo
exaly +7 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 +2 more
exaly +6 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 ...
Jiaqing Li, Sanqing Xu
exaly +5 more sources
Epigenetic alterations in creatine transporter deficiency: a new marker for dodecyl creatine ester therapeutic efficacy monitoring [PDF]
Frontiers in NeuroscienceCreatine 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.
Lea Broca-Brisson +2 more
exaly +6 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 +9 more
doaj +3 more sources
Dodecyl creatine ester improves cognitive function and identifies key protein drivers including KIF1A and PLCB1 in a mouse model of creatine transporter deficiency [PDF]
Frontiers in Molecular Neuroscience, 2023 Creatine transporter deficiency (CTD), a leading cause of intellectual disability is a result of the mutation in the gene encoding the creatine transporter SLC6A8, which prevents creatine uptake into the brain, causing mental retardation, expressive ...
Aloïse Mabondzo +19 more
doaj +4 more sources
Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts [PDF]
Pharmacology Research and Perspectives, 2019 Creatine transporter deficiency (CTD) is a metabolic disorder resulting in cognitive, motor, and behavioral deficits. Cyclocreatine (cCr), a creatine analog, has been explored as a therapeutic strategy for the treatment of CTD.
Kirill Gorshkov +2 more
exaly +3 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 +2 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 +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 NeuroscienceOver 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 +3 more
doaj +2 more sources