Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts [PDF]
Pharmacology Research & 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 +13 more
doaj +2 more sources
Selective Alteration of the Left Arcuate Fasciculus in Two Patients Affected by Creatine Transporter Deficiency [PDF]
Brain Sciences(1) Background: In hereditary creatine transporter deficiency (CTD), there is an absence of creatine in the brain and neurological symptoms are present, including severe language impairment. However, the pathological changes caused by creatine deficiency
Maurizio Balestrino +3 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 +8 more
europepmc +4 more sources
Ribose supplementation alone or with elevated creatine does not preserve high energy nucleotides or cardiac function in the failing mouse heart [PDF]
, 2013 Background: Reduced levels of creatine and total adenine nucleotides (sum of ATP, ADP and AMP) are hallmarks of chronic heart failure and restoring these pools is predicted to be beneficial by maintaining the diseased heart in a more favourable energy ...
Aksentijevic, Dunja +6 more
core +7 more sources
Early Indicators of Creatine Transporter Deficiency. [PDF]
J Pediatr, 2019 Early identification is a goal for creatine transporter deficiency and will be critical for future treatment. Before their first birthday, one-half of this sample showed both a significant feeding/weight gain issue and delayed sitting or crawling. Combined, these early indicators could have alerted providers to conduct a urine screen.
Miller JS +9 more
europepmc +4 more sources
Cellular Physiology and Biochemistry, 2015 Background: Creatine, Phosphocreatine, and creatine kinases, constitute an energy shuttle that links ATP production in mitochondria with cellular consumption sites.
Lucia Santacruz +3 more
doaj +1 more source
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders
Orphanet Journal of Rare Diseases, 2020 Background Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders.
Shalini Bahl +4 more
doaj +1 more source
Influence of homoarginine on creatine accumulation and biosynthesis in the mouse
Frontiers in Nutrition, 2022 Organisms obtain creatine from their diet or by de novo synthesis via AGAT (L-arginine:glycine amidinotransferase) and GAMT (Guanidinoacetate N-methyltrasferase) in kidney and liver, respectively.
Craig A. Lygate +4 more
doaj +1 more source
Na+-dependent and Na+-independent betaine transport across the apical membrane of rat renal epithelium [PDF]
, 2015 The low renal excretion of betaine indicates that the kidney efficiently reabsorbs the betaine filtered by the glomeruli but the mechanisms involved in such a process have been scarcely investigated.
Calonge Castrillo, María Luisa +2 more
core +1 more source
Changes in creatine transporter function during cardiac maturation in the rat [PDF]
, 2010 BACKGROUND: It is well established that the immature myocardium preferentially utilises non-oxidative energy-generating pathways. It exhibits low energy-transfer capacity via the creatine kinase (CK) shuttle, reflected in phosphocreatine (PCr), total ...
Alexandra Fischer +7 more
core +3 more sources