Non-Ketotic Hyperglycinaemia and Communication Hannah McIntyre (F2) Thanks to Dr J Shepherd (Consultant Paediatrician) What: Rare metabolic disorder that can lead to death or severe disability Diagnosis: Clinical findings, CSF, MRI,
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Presentation Transcript
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Non-Ketotic Hyperglycinaemia and Communication Hannah McIntyre (F2)
Thanks to Dr J Shepherd (Consultant Paediatrician)<br>
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What: Rare metabolic disorder that can lead to death or severe disability
References
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Farmer J. et al (2022). Civility Saves Lives. In: Dekker S. et al (Ed) Restorative Just Culture in Practice. 1st Edition. New York: Routledge. Chapter 13
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Krawiec C, Anastasopoulou C. (2023) Nonketotic Hyperglycinemia. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK556140/ [Last Accessed 16/01/2023]
Stence NV, Fenton LZ, Levek C et al (2019). Brain imaging in classic nonketotic hyperglycinemia: Quantitive analysis and relation to phenotype. Journal of Inherited Metabolic Disease 42930:438-450. [Online] Available at: https://doi.org/10.1002/jimd.12072 [Last accessed 17/12/2023]
Swanson MA, Garcia SM, Spector E et al (2017). D-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurance. Molecular Genetics and Metabolism. 121 (2):80-82 [Online] Available at: https://doi.org/10.1016/j.ymgme.2017.04.009 [Last accessed 17/12/2023]
Van Hove JLK, Coughlin C, Swanson M, Hennermann JB (2002). Nonketotic Hyperglycinaemia. Gene Reviews [Online]. Available at: https://europepmc.org/article/MED/20301531/NBK1357#impact [Last Accessed 17/12/2023]<br>
