Excretion of short-chain N-acylglycines in the urine of a patient with D-glyceric acidemia.
Five urine samples were collected in clinically quiet periods over a period of one year from a patient suffering from D-glyceric acidemia, and investigated for presence or absence of glycine-conjugates. The findings of isovalerylglycine, 2-methylbutyrylglycine, isobutyrylglycine, and tiglylglycine are interpreted as indications of intracelluar accumulations of isovaleryl-CoA, 2-methylbutyryl-CoA and isobutyryl-CoA. Similarly, the findings of elevated amounts of butyric acid and hexanoic acid together with butyrylglycine, hexanoylglycine, and suberic acid suggest intracellular accumulations of straight-chain acyl-CoA's. It is therefore suggested that this child has a common derangement in his acyl-CoA dehydrogenase (in addition to his primary defect). As possible secondary consequences of this, two points can be mentioned: firstly hyperglycinemia, from which the patient suffered, and secondly, diminished tendency to ketosis, a condition from which the child never suffered, not even in connection with severe intercurrent disease.
D000592:Amino Acid Metabolism, Inborn Errors / Q000652:urine*; D002087:Butyrates / Q000652:urine; D002208:Caproates / Q000652:urine; D002210:Caprylates / Q000652:urine; D002675:Child, Preschool; D005988:Glyceric Acids / Q000097:blood*; D005998:Glycine / Q000031:analogs & derivatives* / Q000652:urine; D006801:Humans; D006868:Hydrolysis; D008956:Models, Chemical
D002087:Butyrates; D002208:Caproates; D002210:Caprylates; D005988:Glyceric Acids; C005916:N-isovalerylglycine; C003603:tiglylglycine; C016567:2-methylbutyrylglycine; C026847:N-isobutyrylglycine; D005998:Glycine