In vivo studies on the metabolic derangement in a patient with D-glyceric acidaemia and hyperglycinaemia
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In a mentally retarded boy, who excreted elevated amounts of glycine,d-glyceric acid and acylglycines and whose cells exhibited diminishedd-glycerate dehydrogenase and glycine cleavage activity, investigations have been undertaken aiming at characterizing the relationship betwnen the different accumulations. This was donein vivo by trying in a specific manner to alter in turn the degree of accumulation of each of the three classes of compounds and then monitoring changes in the others. The results suggest, that thed-glyceric acid accumulation is directly caused by the genetic defect, since thed-glyceric acid excretion was not altered by changes in degree of accumulation of either glycine or acylglycines. Similarly alterations in acylglycine excretion caused alterations in glycine but not ind-glyceric acid excretion.
Based on these findings a model for the pathogenesis behind the accumulations of acylglycines and glycine is proposed.
KeywordsPublic Health Internal Medicine Glycine Metabolic Disease Genetic Defect
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