In vivo studies on the metabolic derangement in a patient with D-glyceric acidaemia and hyperglycinaemia.
In a mentally retarded boy, who excreted elevated amounts of glycine, D-glyceric acid and acylglycines and whose cells exhibited diminished D-glycerate dehydrogenase and glycine cleavage activity, investigations have been undertaken aiming at characterizing the relationship between the different accumulations. This was done in 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 the D-glyceric acid accumulation is directly caused by the genetic defect, since the D-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 in D-glyceric acid excretion. Based on these findings a model for the pathogenesis behind the accumulations of acylglycines and glycine is proposed.
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism*; D002237:Carbohydrate Dehydrogenases / Q000172:deficiency; D002675:Child, Preschool; D004032:Diet; D005632:Fructose; D005988:Glyceric Acids; D005998:Glycine / Q000008:administration & dosage / Q000031:analogs & derivatives / Q000097:blood* / Q000652:urine; D006801:Humans; D008297:Male; D011392:Proline / Q000008:administration & dosage; D011422:Propionates / Q000097:blood* / Q000652:urine; D012256:Riboflavin; D012694:Serine / Q000008:administration & dosage
D005988:Glyceric Acids; D011422:Propionates; C043029:N-butyrylglycine; C005916:N-isovalerylglycine; D005632:Fructose; D012694:Serine; C016567:2-methylbutyrylglycine; C026847:N-isobutyrylglycine; C042971:glyceric acid; D011392:Proline; D002237:Carbohydrate Dehydrogenases; C020669:Glycerate dehydrogenase; D005998:Glycine; D012256:Riboflavin