alexa Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia.
Clinical Research

Clinical Research

Journal of Clinical Case Reports

Author(s): Lang TF, Parr JR, Matthews EE, Gray RG, Bonham JR,

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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. This article was published in Dev Med Child Neurol and referenced in Journal of Clinical Case Reports

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