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Rare Diseases - Glutathione Synthase Deficiency Glutathione synthase deficiency, or proglutamicaciduria, is the most severe form of glutathione deficiency
Nature 583 , 459468 (2020)
10.1007/s13205-020-02354-7 107 YeC.LiangY.ChenY.XiongY.SheY.ZhongX.et al (2021)
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In conclusion, the available literature in this field suggests that it is now time for the design of large-scale prospective studies, spanning over at least three different generations, in order to clarify the possible contribution of both maternal and maternal grandmother's diet and genotype to the occurrence of meiotic errors favoring chromosome 21 malsegregation and the birth of a DS child, as well as to other metabolic changes and/or epigenetic modifications leading to death in utero or to the occurrence of either congenital or age-related DS comorbidities
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