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
Article

Abstract

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.

Keywords

Public Health Internal Medicine Glycine Metabolic Disease Genetic Defect 

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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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