نتایج جستجو برای: creatine deficiency syndrome
تعداد نتایج: 748934 فیلتر نتایج به سال:
Creatine, a compound that is critical for energy metabolism of nervous cells, crosses the blood-brain barrier (BBB) and the neuronal plasma membrane with difficulty, and only using its specific transporter. In the hereditary condition where the creatine transporter is defective (creatine transporter deficiency) there is no creatine in the brain, and administration of creatine is useless lacking...
Background: Acute compartment syndrome is considered a debilitating complication of limb trauma. Early detection of this compartment syndrome helps us in the early initiation of treatment which will result in preventing its subsequent complications reported in these cases. Methods: This research was an analytical cross-sectional study. Patients with direct trauma to extremities, who were refer...
Arginine:glycine amidinotransferase (AGAT) catalyzes the first step of creatine synthesis, resulting in the formation of guanidinoacetate, which is a substrate for creatine formation. In two female siblings with mental retardation who had brain creatine deficiency that was reversible by means of oral creatine supplementation and had low urinary guanidinoacetate concentrations, AGAT deficiency w...
It was long thought that most of brain creatine was of peripheral origin. However, recent works have demonstrated that creatine crosses blood-brain barrier only with poor efficiency, and that CNS must ensure parts of its creatine needs by its own creatine synthesis pathway, thank to the brain expression of AGAT and GAMT (creatine synthesis) and SLC6A8 (creatine transporter). This new understand...
A recent investigation by Van Pilsum and Wahman (1) revealed low kidney transamidinase activities in vitamin Edeficient rabbits. One logical mechanism to explain this finding is suggested by the observation that dietary creatine depresses kidney transamidinase activity in rats (2, 3). I f the creatinuria of vitamin E deficiency depresses glycocyamine synthesis by kidney transamidinase while cre...
X-linked creatine transport (CRTR) deficiency, caused by mutations in the SLC6A8 gene, leads to intellectual disability, speech delay, epilepsy, and autistic behavior in hemizygous males. Additional diagnostic features are depleted brain creatine levels and increased creatine/creatinine ratio (cr/crn) in urine. In heterozygous females the phenotype is highly variable and diagnostic hallmarks mi...
BACKGROUND Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlation has been lacking. METHODS We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked cr...
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