neonatal glutathione synthetase deficiency Inborn errors in the metabolism of | Orphanet Journal of Rare Diseases Glutathione Participation in the Prevention

Among enriched pathways between CON and DSS groups, 13 pathways with a significant difference were the metabolism of xenobiotics by cytochrome P450, purine metabolism, chemical carcinogenesis-DNA adducts, pentose and glucuronate interconversions, chemical carcinogenesis-receptor activation, chemical carcinogenesis-reactive oxygen species, cAMP signaling pathway, estrogen signaling pathway, endocrine and other factor-regulated calcium reabsorption, breast cancer, vitamin B6 metabolism, thermogenesis, inflammatory mediator regulation of TRP channels, which involved in 24 potential biomarkers including L-Noradrenaline, dimethylarsinous acid, oleoylethanolamide, 4-Pyridoxic acid, 2-Oxo-3-hydroxy-4-phosphobutanoate, 2-(Hydroxymethyl)-4-oxobutanoate, estradiol, 5-HETE, histamine, 15(S)-HETE, 5-Amino-4-imidazolecarboxyamide, dGMP, xanthosine, dIMP, Sudan I, digalacturonate, and D-Fructuronate, etc

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with -synuclein pathology

Waheed Y

[DOI] [PubMed] [Google Scholar] 314.Mathews PM & Levy E