Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia

Developmental Medicine and Child Neurology
T F LangJ D S Kay

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.

References

Jun 1, 1979·The Journal of Pediatrics·G S SteimanS Segal
Jan 1, 1992·The Journal of Pediatrics·S KureK Tada
Oct 1, 1992·The Journal of Pediatrics·F J EyskensP Mariën
Jun 1, 1989·The Journal of Pediatrics·A S LuderC L Greene
Feb 1, 1989·Annals of Neurology·R SchiffmannM Ampola
Dec 1, 1995·Neuropediatrics·E ZammarchiF Ciani
Jun 1, 1996·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·S C Bellman
Nov 1, 1996·Journal of the American Academy of Dermatology·B BellmanV Falanga
Nov 7, 2002·Developmental Medicine and Child Neurology·Stanley H Korman, Alisa Gutman
Sep 15, 2005·Molecular Genetics and Metabolism·Argirios DinopoulosShigeo Kure
Feb 2, 2006·Human Mutation·Shigeo KureYoichi Matsubara

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Citations

Feb 18, 2015·Brain & Development·Sonia OrivoliFrancesco Pisani
Jul 31, 2016·Neurología : publicación oficial de la Sociedad Española de Neurología·J Contreras-RouraL Martínez-Rey
Feb 27, 2016·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Carlotta FaciniFrancesco Pisani
Feb 22, 2011·Journal of Child Neurology·Samah AburahmaJames Gibson
Dec 23, 2011·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·C Bryce JohnsonJeffrey M Macdonald
Mar 13, 2019·Drug and Alcohol Review·Jennifer DebenhamMina Askovic

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