Methionine synthase deficiency: A rare cause of adult-onset leukoencephalopathy

Synergistic anti‐oomycete effect of melatonin with a biofungicide against oomycetic black shank disease

“…This result shows that the combination of melatonin and ethylicin causes the synergistic effect on the gene expression of DEGs involved in amino acid metabolism (Synergistic DEGs: |gene expression of (melatonin + ethylicin)| > |gene expression of (melatonin/ethylicin alone)|). For example, compared to single‐agent treatment, there was a dramatic reduction of gene expressions in pyruvate kinase and methionine synthase under the treatment of drug combination (Table D), the genetic mutation of which can destroy protein metabolism and cause serious physiological defects . Collectively, compared to single drug treatment, the combination of melatonin and ethylicin significantly enhances the interference effect on amino acid metabolism, which may cause the synergistic hyphal inhibition of P. nicotianae .…”

“…For example, compared to single-agent treatment, there was a dramatic reduction of gene expressions in pyruvate kinase and methionine synthase under the treatment of drug combination (Table S3D), the genetic mutation of which can destroy protein metabolism and cause serious physiological defects. [43][44][45][46] Collectively, compared to single drug treatment, the combination of melatonin and ethylicin significantly enhances the interference effect on amino acid metabolism, which may cause the synergistic hyphal inhibition of P. nicotianae.…”

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

“…In general, a pattern of haematological, neurological and ophthalmological symptoms is characteristic for the disorders. The most frequently reported symptoms are megaloblastic/macrocytic anemia or macrocytosis Mülleretal2007;Richard et al 2013;Schuh et al 1984;Steen et al 1997;Vilaseca et al 2003;Zavadakova et al 2002Zavadakova et al , 2005Carmel et al 1988;H a r d i n g et al 1997; Labrune et al 1999;Outteryck et al 2012); developmental delay, cognitive dysfunction or mental retardation ;M ü l l e re ta l2007; Richard et al 2013;Rosenblatt et al 1985;Schuh et al 1984;Steen et al 1997;Zavadakova et al 2002Zavadakova et al , 2005Carmel et al 1988;Kvittingen et al 1997;Outteryck et al 2012;Poloschek et al 2005); seizures (Müller et al 2007;Richard et al 2013;Steen et al 1997;Zavadakovaetal2002;Harding et al 1997;Kvittingen et al 1997); pathological eye movements including nystagmus and impaired visual acuity (Steen et al 1997;Zavadakovaetal 2002;Kvittingen et al 1997;Outteryck et al 2012;Poloschek et al 2005) and failure to thrive and feeding difficulties (Müller et al 2007;Zavadakova et al 2002;Labrune et al 1999).…”

Maintenance of glutathione levels and its importance in epigenetic regulation

“…A decrease in MS activity results in elevated levels of homocysteine, which is associated with blindness, neurological symptoms, and birth defects including encephalopathy and megaloblastic anemia (Outteryck et al, 2012). For this reason, cellular redox control in which GSH, as the main cellular antioxidant is involved, confers GSH the relevant role of controlling key enzymatic processes.…”