Abstract
In the attempt to uncover underlying pathogenetic factors that bring about the biochemical aberration and the clinical symptoms observed in patients with nonketotic hyperglycinemia, investigations of glycine transport in diploid fibroblasts of children with this syndrome were initiated. Skin fibroblasts from two nonketotic hyperglycinemic cell lines and from three normal cell lines were cultured in Eagle's medium. Amino acid transport measurements were made with cells grown on sterile glass cover-slips according to the method by Foster and Pardee.
The rate of 14C-glycine uptake by fibroblasts from nonketotic hyperglycinemic patients did not differ from that of the control cell lines during the first part (30 min.) of the experiment, yet subsequently the rate of 14C-glycine uptake decreased gradually in nonketotic hyperglycinemic cells.
The results of this study are in support of the hypothesis that glycine transport across cell membranes in patients with nonketotic hyperglycinemia is similar to the transport by the A system of other mammalian cell lines. Therefore, we do not consider the biochemical pertubation and the clinical course in nonketotic hyperglycinemia to be caused by a primary membrane transport defect.
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Pueschel, S., Bovlan, J. & Stern, L. 1173 14C-GLYCINE UPTAKE BY FIBROBLASTS IN CHILDREN WITH NONKETOTIC HYPERGLYCINEMIA. Pediatr Res 15 (Suppl 4), 638 (1981). https://doi.org/10.1203/00006450-198104001-01199
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DOI: https://doi.org/10.1203/00006450-198104001-01199
