Journal of Inherited Metabolic Disease

, Volume 7, Issue 2, pp 49–52 | Cite as

In vivo studies on the metabolic derangement in a patient with D-glyceric acidaemia and hyperglycinaemia

  • S. Kølvraa
  • N. Gregersen
  • E. Christensen


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.


Public Health Internal Medicine Glycine Metabolic Disease Genetic Defect 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© SSIEM and MTP Press Limited 1984

Authors and Affiliations

  • S. Kølvraa
    • 1
  • N. Gregersen
    • 2
  • E. Christensen
    • 3
  1. 1.Institute of Human GeneticsUniversity of AarhusDenmark
  2. 2.Research Laboratory for Metabolic DisordersUniversity Department of Clinical Chemistry, Aarhus Kommune-hospitalAarhusDenmark
  3. 3.Section of Clinical GeneticsUniversity Department of Pediatrics and of Gynaecology and Obstetrics, RigshospitaletCopenhagenDenmark

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