Nonketotic Hyperglycinemia (Glycine Encephalopathy): Laboratory Diagnosis

Nonketotic Hyperglycinemia (Glycine Encephalopathy): Laboratory Diagnosis Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder of glycine metabolism caused by a defect in the glycine cleavage enzyme complex (GCS). GCS is a complex of four proteins encoded on four different chromosomes. In classical neonatal NKH, levels of cerebrospinal fluid (CSF) glycine and CSF/plasma glycine ratio are very high but the CSF results, in particular, may be more difficult to interpret in later-onset, milder, or otherwise atypical NKH. Enzymatic confirmation of NKH requires a liver sample. Delineation of which protein of the complex is defective is necessary to screen for mutations in the appropriate gene. Except for Finnish NKH patients, few recurrent mutations have yet been found, although analysis of the P-protein gene (the site of the defect in the majority of patients) is at an early stage. Prenatal diagnosis by GCS assay in chorionic villus biopsies is not completely reliable and will be replaced by molecular analysis in families where the mutations are known. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Molecular Genetics and Metabolism Elsevier

Nonketotic Hyperglycinemia (Glycine Encephalopathy): Laboratory Diagnosis

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Publisher
Elsevier
Copyright
Copyright © 2001 Academic Press
ISSN
1096-7192
eISSN
1096-7206
DOI
10.1006/mgme.2001.3224
Publisher site
See Article on Publisher Site

Abstract

Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder of glycine metabolism caused by a defect in the glycine cleavage enzyme complex (GCS). GCS is a complex of four proteins encoded on four different chromosomes. In classical neonatal NKH, levels of cerebrospinal fluid (CSF) glycine and CSF/plasma glycine ratio are very high but the CSF results, in particular, may be more difficult to interpret in later-onset, milder, or otherwise atypical NKH. Enzymatic confirmation of NKH requires a liver sample. Delineation of which protein of the complex is defective is necessary to screen for mutations in the appropriate gene. Except for Finnish NKH patients, few recurrent mutations have yet been found, although analysis of the P-protein gene (the site of the defect in the majority of patients) is at an early stage. Prenatal diagnosis by GCS assay in chorionic villus biopsies is not completely reliable and will be replaced by molecular analysis in families where the mutations are known.

Journal

Molecular Genetics and MetabolismElsevier

Published: Sep 1, 2001

References

  • Biochemical and molecular investigations of patients with nonketotic hyperglycinemia
    Toone, JR; Applegarth, DA; Coulter-Mackie, MB; James, ER
  • Measurement of lactate in cerebrospinal fluid in investigation of metabolic disease
    Hutchesson, A; Preece, MA; Gray, G; Green, A
  • Neonatal type of nonketotic hyperglycinemia
    Lu, FL; Wang, P-J; Hwu, W-L; Yau K-I, T; Wang, T-R
  • Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): A strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH)
    Toone, JR; Applegarth, DA; Coulter-Mackie, MB; James, ER
  • Identification of the first reported splice site mutation (IVS7-1G > A) in the aminomethyltransferase (T-protein) gene of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia
    Toone, JR; Applegarth, DA; Coulter-Mackie, MB; James, ER
  • Transient neonatal hyperglycinemia
    Schiffmann, R; Kaye, EM; Willis, JK; Africk, D; Ampola, M
  • Ontogeny of hepatic enzymes involved in serine- and folate-dependent one carbon metabolism in rabbits
    Thompson, HR; Jones, GM; Narkewicz, MR

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