Summary
The incidence of non-ketotic hyperglycinaemia (NKH), McKusick 23830, in the population of British Columbia, Canada was found to be the same as that reported for Finland. We present the plasma glycine levels in ten non-ketotic hyperglycinaemia patients and outline difficulties in interpreting plasma glycine levels in their newborn siblings. We propose the use of a placental glycine cleavage enzyme (EC 2.1.1.10) assay to rule out a diagnosis of non-ketotic hyperglycinaemia in at-risk infants during the first few days of life.
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Toone, J.R., Applegarth, D.A. Use of placental enzyme analysis in assessment of the newborn at risk for nonketotic hyperglycinaemia (NKH). J Inherit Metab Dis 12, 281–285 (1989). https://doi.org/10.1007/BF01799218
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DOI: https://doi.org/10.1007/BF01799218