Results 1 to 10 of about 350 (155)
Gene therapy for guanidinoacetate methyltransferase deficiency restores cerebral and myocardial creatine while resolving behavioral abnormalities [PDF]
Molecular Therapy - Methods and Clinical Development, 2022 Creatine deficiency disorders are inborn errors of creatine metabolism, an energy homeostasis molecule. One of these, guanidinoacetate N-methyltransferase (GAMT) deficiency, has clinical characteristics that include features of autism, self-mutilation ...
Suhail Khoja, P Patel, Itzhak Nissim
exaly +8 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.
Ali El-Kasaby +2 more
exaly +5 more sources
Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023 [PDF]
Molecular and Cellular PediatricsBackground Cerebral creatine deficiency disorders (CCDD) are rare diseases caused by defects in the enzymes L-arginine: glycine amidinotransferase (AGAT) or guanidinoacetate-N-methyltransferase (GAMT), which are involved in synthesis of creatine; or by a
Olivier Braissant +2 more
exaly +8 more sources
Indian Pediatrics Case ReportsBackground: Cerebral creatine deficiency syndrome (CCDS) is a rare metabolic disorder characterized by creatine deficiency in the brain, leading to developmental delays, intellectual disabilities, and neurological impairments.
Allen David +3 more
doaj +3 more sources
Are cerebral creatine deficiency syndromes on the radar screen?
Future Neurology, 2006 Cerebral creatine deficiency syndromes (CCDS) are responsible for a considerable proportion of the population affected with mental retardation. CCDS are caused by either an inborn error of the proteins involved in creatine biosynthesis or in the creatine transporter.
Efraim H Rosenberg, Nanda M Verhoeven
exaly +2 more sources
Clinica Chimica Acta, 2022 Cerebral creatine deficiency syndromes (CCDSs) are a group of rare mendelian disorders mainly characterized by intellectual disability, movement anomaly, behavior disorder and seizures. SLC6A8, GAMT, and GATM are known genes responsible for CCDS. In this study, seven pediatric patients with developmental delay were recruited and submitted to a series ...
Kai Yang, Chunyan Zhang, Yaping Tian
exaly +3 more sources
Biological and Pharmaceutical Bulletin, 2017 Cerebral creatine deficiency syndromes (CCDSs) are caused by loss-of-function mutations in creatine transporter (CRT, SLC6A8), which transports creatine at the blood-brain barrier and into neurons of the central nervous system (CNS). This results in low cerebral creatine levels, and patients exhibit mental retardation, poor language skills and epilepsy.
Masanori Tachikawa +2 more
exaly +4 more sources
X-Linked Cerebral Creatine Deficiency Syndrome with Prolonged QT Interval: A Case Report [PDF]
Annals of Child Neurology, 2022 Hye Won Kim +4 more
doaj +2 more sources
Biological and Pharmaceutical BulletinCerebral creatine deficiency syndromes (CCDS) are neurodevelopmental disorders caused by a decrease in creatine levels in the central nervous system (CNS) due to functional mutations in creatine synthetic enzymes or creatine transporter (CRT/SLC6A8).
Ryuta Jomura +2 more
exaly +3 more sources