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  • Title: Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia.
    Author: Lang TF, Parr JR, Matthews EE, Gray RG, Bonham JR, Kay JD.
    Journal: Dev Med Child Neurol; 2008 Feb; 50(2):157-9. PubMed ID: 18201306.
    Abstract:
    Making a diagnosis of transient non-ketotic hyperglycinaemia (tNKH) can be difficult. We report an infant who presented in the neonatal period with symptoms of NKH. Metabolic studies performed on day 2 of life showed raised cerebrospinal fluid (CSF) and plasma glycine, and a CSF:plasma glycine ratio consistent with NKH; however, a liver biopsy performed on day 5 revealed normal liver glycine cleavage system activity. Subsequently, the child's clinical condition improved in the absence of any therapeutic medication. Clinical assessment and developmental follow-up at 5 months, 1 year, and 2 years were age-appropriate. Guidance for the investigation and management of future suspected cases of tNKH is discussed.
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