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

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Journal of Inherited Metabolic Disease

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.

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Authors and Affiliations

  1. Institute of Human Genetics, University of Aarhus, Denmark

    S. Kølvraa

  2. Research Laboratory for Metabolic Disorders, University Department of Clinical Chemistry, Aarhus Kommune-hospital, Aarhus, Denmark

    N. Gregersen

  3. Section of Clinical Genetics, University Department of Pediatrics and of Gynaecology and Obstetrics, Rigshospitalet, Copenhagen, Denmark

    E. Christensen

Authors
  1. S. Kølvraa
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  2. N. Gregersen
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  3. E. Christensen
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Kølvraa, S., Gregersen, N. & Christensen, E. In vivo studies on the metabolic derangement in a patient with D-glyceric acidaemia and hyperglycinaemia. J Inherit Metab Dis 7, 49–52 (1984). https://doi.org/10.1007/BF01805799

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  • DOI: https://doi.org/10.1007/BF01805799

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