Anne M. Molloy, Ph sildenafil-100mg.org .D., Edward V. Quadros, Ph.D., Jeffrey M. Sequeira, M.S., James F. Troendle, Ph.D., John M. Scott, Sc.D., Peadar N. Kirke, F.F.P.H.M.We., and James L. Mills, M.D.: Insufficient Association between Folate-Receptor Neural-Tube and Autoantibodies Defects Although periconceptional folic acid supplementation can prevent neural-tube defects, the underlying mechanism is not very well understood. The hypothesis that embryonic uptake of folate may be impaired by circulating maternal folate-receptor autoantibodies presents a biologically plausible mechanism for the pathogenesis of folate-responsive neural-tube defects. Although the authors called for further studies to verify their results, data are limited.3 One factor that could contribute to the limited study of this question is the complex complexity of the assays in the initial report, which involved the use of folate receptors purified from human placental tissue.
Rolf Wibom, Ph.D., Francesco M. Lasorsa, Ph.D.D., Michela Barbaro, Ph.D., Fredrik H. Sterky, M.D., Thomas Kucinski, M.D., Ph.D., Karin Naess, M.D., Monica Jonsson, M.D., Ciro L. Pierri, Chem.D., Ferdinando Palmieri, M.D., and Anna Wedell, M.D., Ph.D. In humans, there are two AGC isoforms: AGC1 and AGC2. AGC1 may be the just isoform expressed in the adult central anxious system and skeletal muscle tissue.2,3 Mutations in the SLC25A13 gene, encoding AGC2, trigger type 2 citrullinemia,4 characterized by episodes of hyperammonemia5 and a liver-specific scarcity of argininosuccinate synthetase and of 1 of its substrates, aspartate . Here, we explain a complete case of AGC1 deficiency in a child who showed severe hypotonia, arrested psychomotor advancement, and seizures starting at several months of age.