Creatine transporter deficiency (CTD) is an inborn error of creatine metabolism in which creatine is not properly transported to the brain and muscles...

GAMT. Both biosynthetic defects are inherited in an autosomal recessive manner. A third defect, creatine transporter defect, is caused by mutations in...

are caused by a lack of creatine in the brain, due to the defective transporter. There are also two enzymatic defects of creatine biosynthesis, arginine:glycine...

chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene. Mutations of the SLC6A8 gene can cause cerebral creatine deficiency...

2023-08-21. "MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY; MCT1D". omim.org. Retrieved 2023-08-21. "ERYTHROCYTE LACTATE TRANSPORTER DEFECT". omim.org. Retrieved...

of brain creatine depletion. AGAT deficiency is, along with GAMT and creatine transporter defect, one of three inborn errors of the creatine biosynthesis/transport...

(March 2001). "Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?". Annals of Neurology. 49 (3):...

transporter (DAT), norepinephrine transporter (NET), and serotonin transporter (SERT). When methamphetamine binds to TAAR1, it triggers transporter phosphorylation...

dehydrogenase deficiency, erythrocyte lactate transporter defect, and myopathy with myalgia, increased serum creatine kinase, with or without episodic rhabdomyolysis...

and Rippling muscle disease. Erythrocyte lactate transporter defect (formerly Lactate transporter defect, myopathy due to) also includes exercise-induced...

hydrocephalus Craniosynostosis Craniotelencephalic dysplasia Crawfurd syndrome Creatine deficiency Creeping disease CREST syndrome (Calcinosis Raynaud's Esophagus...

such as Brody disease, Rippling muscle disease, Erythrocyte lactate transporter defect, a small number of muscular dystrophies, Tubular aggregate myopathy...

the various enzymes and transporters involved in the urea cycle, and cause urea cycle disorders. If individuals with a defect in any of the six enzymes...

respective state. For cellular bioenergetics, changes include lactate levels, creatine levels, NAD+/NADH ratio (nicotinamide adenine dinucleotide), ATP (adenosine...

arthritis, leg edema, polydipsia, and myalgias. Elevations of creatinine and creatine phosphokinase were also found over a long term use. A new novel treatment...

breakdown of muscular fibers, or rhabdomyolysis, can lead to detectable blood creatine phosphate level elevation and potentially exaggerated hyperkalemia. Delayed...

they are highly specific for cardiac disease. Testing for the MB form of creatine kinase provides information about the heart's blood supply, but is used...

low. These bodies are transported into the brain by monocarboxylate transporters 1 and 2. Therefore, ketone bodies are a way to move energy from the liver...

patient's blood levels should be regularly tested. It is known to cause birth defects due to in-utero exposure because of the molecule's close resemblance to...

oligomerization and binding to the OMM. In a similar mechanism, the pro-apoptotic creatine kinase binds and opens VDAC in the absence of hexokinase II. An alternative...

caused by mutations that affect the function of the neutral amino acid transporter A. The classification of L-serine as a non-essential amino acid has come...

tissue of higher organisms. Severe diseases such as scurvy can result from defects in this hydroxylation, e.g., mutations in the enzyme prolyl hydroxylase...

114769. PMID 26702122. S2CID 378245. Tarnopolsky MA (2010). "Caffeine and creatine use in sport". Annals of Nutrition & Metabolism. 57 (Suppl 2): 1–8. doi:10...

fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain". J Cereb Blood Flow Metab. 33 (2): 175–82. doi:10...

almost 6.0 per 10,000 persons, per year. Monitoring liver enzymes and creatine kinase is especially prudent in those on high-dose statins or in those...

153650; MYH9 Erythermalgia, primary; 133020; SCN9A Erythrocyte lactate transporter defect; 245340; SLC16A1 Erythrocytosis, familial, 3; 609820; EGLN1 Erythrocytosis...

most frequent adverse effects included fatigue, elevated liver enzymes (creatine kinase, lactate dehydrogenase, aspartate aminotransferase, alanine transaminase)...

PMID 15607143. Robinson MB, Lee ML, DaSilva S (March 2020). "Glutamate Transporters and Mitochondria: Signaling, Co-compartmentalization, Functional Coupling...

progenitor proliferation and survival resulting in limb muscle patterning defects. The expression of OSR1 is more reduced in lung cancer tissues than in...