Skip to main content
SpringerLink
Log in

Non-ketotic hyperglycinaemia presenting as pachygyria

  • Published:
Journal of Inherited Metabolic Disease

Summary

A 2-day-old infant with lethargy and hypoventilation had pachygyria and agenesis of the corpus callosum on CT scand. Increased concentrations of glycine in plasma and CSF, together with an increased CSF/plasma ratio, confirmed a clinical diagnosis of non-ketotic hyperglycinaemia. This is the first report of pachygyria in this disorder, although agenesis of the corpus callosum is well recognized, and non-specific gyral malformations have been described previously. The specific diagnosis of an inborn error of metabolism in infants with structural brain malformations is of critical importance for accurate genetic counselling.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Dobyns WB (1989) Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinaemia.Neurology 39: 817–820.

    PubMed  CAS  Google Scholar 

  • Hamosh A, Johnston MV, Valle D (1995) Nonketotic hyperglycinaemia. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1337–1348.

    Google Scholar 

  • Hayasaka K, Tada K, Fueki N, Aikawa J (1990) Prenatal diagnosis of nonketotic hyperglycinaemia: enzymatic analysis of the glycine cleavage system in chorionic villi.J Pediatr 116: 444–445.

    Article  PubMed  CAS  Google Scholar 

  • Kure S, Narisawa K, Tada K (1992) Enzymatic diagnosis of nonketotic hyperglycinaemia with lymphoblasts.J Pediatr 120: 95–98.

    Article  PubMed  CAS  Google Scholar 

  • Scher MS, Bergman I (1986) Neurophysiological and anatomical correlations in neonatal nonketotic hyperglycinaemia.Neuropediatrics 17: 137–143.

    Article  PubMed  CAS  Google Scholar 

  • Toone JR, Applegarth DA, Levy H (1994) Prenatal diagnosis for non-ketotic hyperglycinaemia: experience of 50 at-risk pregnancies.J Inher Metab Dis 17: 342–344.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Genetics, Prince of Wales Children's Hospital, Randwick

    J. M. Fletcher

  2. Department of Paediatric Neurology, Prince of Wales Children's Hospital, Randwick

    A. M. E. Bye

  3. Department of Radiology, Prince of Wales Children's Hospital, Randwick

    V. Nayanar

  4. Department of Genetics, Royal Alexandra Hospital for Children, Camperdown

    J. M. Fletcher & B. Wilcken

  5. Oliver Latham Laboratory, North Ryde, Australia

    B. Wilcken

Authors
  1. J. M. Fletcher
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. A. M. E. Bye
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. V. Nayanar
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. B. Wilcken
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Fletcher, J.M., Bye, A.M.E., Nayanar, V. et al. Non-ketotic hyperglycinaemia presenting as pachygyria. J Inherit Metab Dis 18, 665–668 (1995). https://doi.org/10.1007/BF02436754

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02436754

Keywords

Search

Navigation