Journal of Inherited Metabolic Disease

, Volume 15, Issue 5, pp 713–719 | Cite as

Prenatal diagnosis of Non-ketotic hyperglycinaemia

  • J. R. Toone
  • D. A. Applegarth
  • H. L. Levy


Non-ketotic hyperglycinaemia (NKH) is a devastating neurological disease for which there is no effective therapy. Consequently, most couples with a pregnancy known to be at risk for NKH request prenatal diagnosis. We have applied the combination of chorionic villus (CVS) assay for glycine cleavage enzyme activity and determination of amniotic fluid glycine concentration to increase the reliability of prenatal diagnosis for this disorder beyond that of each of these methods alone. All 15 of the at-risk pregnancies monitored had CVS glycine cleavage assay and five also had amniotic fluid glycine measurements. Two cases had no detectable cleavage activity in CVS and one gave uninterpretable enzyme results. Amniotic fluid glycine concentration was increased in all three and NKH was confirmed by abortus tissue assays for cleavage activity and amino acids. The remaining 12 case had activity in CVS (two also had normal amniotic fluid glycine levels) and delivered unaffected infants. Four of these 12 cases had cleavage activities below or at the low end of the normal range, perhaps indicating carrier status. We believe that the combination of CVS glycine cleavage assay and amniotic fluid glycine measurement is currently the best approach to the prenatal diagnosis of NKH.


Glycine Neurological Disease Effective Therapy Prenatal Diagnosis Carrier Status 
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Copyright information

© SSIEM and Kluwer Academic Publishers 1992

Authors and Affiliations

  • J. R. Toone
    • 1
  • D. A. Applegarth
    • 1
  • H. L. Levy
    • 2
    • 3
  1. 1.Department of Pathology, Biochemical Diseases LaboratoryBC Children's HospitalVancouverCanada
  2. 2.Joseph P. Kennedy, Jr Laboratories of the Neurology ServiceMassachusetts General HospitalUSA
  3. 3.Department of NeurologyHarvard Medical SchoolBostonUSA

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