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 +2 more sources
Creatine transporter deficiency: Novel mutations and functional studies
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 +12 more
doaj +2 more sources
BMC Medical Genetics, 2018 Background X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe speech impairment, seizures and behavioral problems.
Qin Wang +5 more
doaj +2 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.
Léa Broca-Brisson +10 more
doaj +2 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 +9 more
doaj +2 more sources
Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report [PDF]
Epilepsia OpenCreatine transporter deficiency (CRTR‐D) is a rare X‐linked inherited disease belonging to the group of cerebral creatine deficiency disorders. Major clinical features include developmental delay and epilepsy.
Maria Borrell‐Pichot +3 more
doaj +2 more sources
F1000Research, 2015 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 +10 more
doaj +2 more sources
How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiency [PDF]
Frontiers in NeuroscienceThe current era of drug development has evolved significantly. Patient advocacy organizations are moving beyond simply supporting community members and are taking the reins to improve the speed of diagnoses, initiate therapeutic discoveries, and lay the ...
Heidi Wallis +2 more
doaj +2 more sources
Guanidinoacetate N-methyltransferase deficiency: Case report and brief review of the literature
Radiology Case Reports, 2023 Guanidinoacetate N-methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder characterized by a decrease in creatine synthesis, resulting in cerebral creatine deficiency syndrome (CCDS). GAMT deficiency is caused by mutations in the GAMT
Joshua L. Libell, BS +5 more
doaj +1 more source
Cerebral Creatine Deficiency Affects the Timing of Oligodendrocyte Myelination
The Journal of Neuroscience, 2023 Cerebral creatine deficiency syndrome (CCDS) is an inborn error of metabolism characterized by intellectual delays, seizures, and autistic-like behavior. However, the role of endogenously synthesized creatine on CNS development and function remains poorly understood.
Lauren M. Rosko +10 more
openaire +2 more sources