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2,240 Possible Causes for activity, glycine, synthase

  • Neuronal Ceroid Lipofuscinosis 8

    Clonazepam functions by increasing GABA activity at the GABAA receptor.[en.wikipedia.org] […] strongly stained by the Luxol fast blue, periodic acid‐Schiff, and Sudan black B methods in paraffin sections, and were immunoreactive for subunit c of the mitochondrial ATP synthase[doi.org] The seizures increase in frequency until puberty after which the epileptic activity starts to decline.[orpha.net]

  • Erythropoietic Porphyria

    Abstract The administration of oral activated charcoal to two patients with congenital erythropoietic porphyria has previously been reported to result in a marked reduction[ncbi.nlm.nih.gov] […] exonic base of intron-exon junctions in vertebrate genes. 31 Thus, the homoallelism for the missense substitution of a positively charged hydrophilic arginine for a neutral glycine[bloodjournal.org] The molecular abnormality responsible for the characteristic defect in uroporphyrinogen III synthase activity was investigated in two patients.[ncbi.nlm.nih.gov]

  • Infectious Mononucleosis

    The mitogen responses were decreased and natural killer (NK) cell activity was low.[dx.doi.org] […] antigen-1 through Epstein-Barr nuclear antigen-1's glycine/alanine repeat.[dx.doi.org] View Article PubMed Google Scholar Li Y, Webster-Cyriaque J, Tomlinson CC, Yohe M, Kenney S: Fatty acid synthase expression is induced by the Epstein-Barr virus immediate-early[dx.doi.org]

  • Sideroblastic Anemia

    In one patient, the treatment with prednisone was followed by the resolution of the SLE activity and the disappearance of the SA.[ncbi.nlm.nih.gov] glycine importer.[ncbi.nlm.nih.gov] BACKGROUND: X-linked sideroblastic anemia is usually associated with reduced 5-aminolevulinate synthase activity in erythroid cells, and some cases are responsive to treatment[ncbi.nlm.nih.gov]

  • Tuberculosis

    However, the role of IGRAs for the diagnosis of active tuberculosis (TB) remains unclear.[ncbi.nlm.nih.gov] Ramakrishnan L, Federspiel NA, Falkow S (2000) Granuloma-specific expression of Mycobacterium virulence proteins from the glycine-rich PE-PGRS family.[springerlink.com] Malnourished mice exhibited a tissue-specific diminution in the expression of interferon γ, tumor necrosis factor α, and the inducible form of nitric oxide synthase in the[dx.doi.org]

  • Nonketotic Hyperglycinemia

    The activity of the T-protein was normal.[ncbi.nlm.nih.gov] The disease is caused by defects in the glycine cleavage system, an enzyme responsible for glycine catabolism.[en.wikipedia.org] […] high levels of the amino acid glycine in bodily fluids and tissues Non-ketotic hyperglycinemia Non-ketotic hyperglycinemia (disorder) nonketotic hyperglycinemia Glycine synthase[wikidata.org]

  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

    […] influence either positively or negatively the activity of the biologically active heterotetrameric form of the PAH.[ncbi.nlm.nih.gov] The major goal of Network I is to set-up a web-based patient registry for inherited defects of biogenic amines, pterin, folate, serine, glycine and GABA metabolism.[intd-online.org] 6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency.[en.wikipedia.org]

  • Malignant Neoplasm

    , ultimately, to affect dietary and physical activity patterns among Americans.[ncbi.nlm.nih.gov] Cross-linking was stopped by the addition of glycine to a final concentration of 125 mM.[doi.org] The increased expression of several inflammation-associated genes in IBD, such as cyclooxygenase-2 (COX-2) and nitric oxide synthase-2 (NOS-2), have also been noted in colonic[doi.org]

  • Hyperammonemia Type 3

    The activity of CPSI depends on the presence of an allosteric activator, namely N-acetyl glutamate.[symptoma.com] Similarly, sodium benzoate reduces ammonia content in the blood by conjugating with glycine to form hippuric acid, which is rapidly excreted by the kidneys.[checkorphan.org] […] in the reaction catalyzed by N-Acetyl glutamate synthase , commonly called NAGS.[en.wikipedia.org]

  • Acute Intermittent Porphyria

    This case report deals with an initial presentation of AIP in an otherwise healthy 21-year-old active duty male Soldier.[ncbi.nlm.nih.gov] Although the reasons for this altered are elusive, these findings indicate that a glycin metabolic reprogramming occurs in AIPr patients and is associated with recurrence.[ncbi.nlm.nih.gov] Acute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by a deficiency of hydroxymethylbilane synthase (HMBS).[ncbi.nlm.nih.gov]