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Inborn Metabolic Diseases pp 349–356Cite as

Nonketotic Hyperglycinaemia (Glycine Encephalopathy)

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Abstract

Nonketotic hyperglycinaemia (NKH) or glycine encephalopathy is an autosomal recessive disorder characterised by a rapidly progressive course in the neonatal period or early infancy. Symptoms include muscular hypotonia, seizures, apnoeic attacks, lethargy and coma. Most patients die within a few weeks, whilst survivors show severe psychomotor retardation. Increased glycine concentrations in plasma, urine, and cerebrospinal fluid are biochemical features of the disorder. The primary lesion is a defect in the glycine cleavage system (GCS) (◘ Fig. 24.1). Although this was first demonstrated in the liver, involvement within the brain is responsible for the clinical expression. No specific treatment is available. Prenatal diagnosis is possible by determining the activity of GCS in chorionic villi and by molecular analysis.

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Authors and Affiliations

  1. Département de Pédiatrie Unité de Neurologie, Hôpital Necker Enfants Malades 149 Rue de Sèvres, Paris Cedex 15, 75743, Paris, France

    Olivier Dulac

  2. Service de Maladies Héréditaires du Métabolisme, Centre de Biologie et de Pathologie Est 59 Boulevard Pinel, 69677, Bron, France

    Marie-Odile Rolland

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  1. Olivier Dulac
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  2. Marie-Odile Rolland
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Editors and Affiliations

  1. Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière 47–83 Boulevard de l’Hôpital, Paris Cedex 13, 75651, Paris, France

    Jean-Marie Saudubray

  2. Laboratory of Physiological Chemistry de Duve Institute, University of Louvain Medical School, Avenue Hippocrate 75/39, 1200, Brussels, Belgium

    Georges van den Berghe

  3. Biochemical Genetics Unit Manchester Academic Health Science Centre, Central Manchester University Hospitals St Mary’s Hospital, Oxford Road, M13 9WL, Manchester, UK

    John H. Walter

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Dulac, O., Rolland, MO. (2012). Nonketotic Hyperglycinaemia (Glycine Encephalopathy). In: Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_24

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  • DOI: https://doi.org/10.1007/978-3-642-15720-2_24

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