Nonketotic hyperglycinemia: A cause of encephalopathy in children

Journal of Child Neurology

Volumn 28, Issue 2, 2013, Pages 251-254

  Veríssimo, Carla ^a   Garcia, Paula ^b   Simões, Marta ^a   Robalo, Conceição ^b   Henriques, Raquel ^b   Diogo, Luísa ^b   Grazina, Manuela ^a,c  

^a UNIVERSITY OF COIMBRA   (Portugal)

^b CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^c UNIVERSITY OF COIMBRA   (Portugal)

Author keywords

glycine; ion exchange chromatography; nonketotic hyperglycinemia

Indexed keywords

GLYCINE;

ANTICONVULSANT THERAPY; APNEA; ARTICLE; BRAIN DISEASE; CASE REPORT; COMA; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; EXON; FEMALE; FETUS DISTRESS; HICCUP; HUMAN; HYPERGLYCINEMIA; HYPERNATREMIA; INFANT; LENNOX GASTAUT SYNDROME; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEWBORN; PRIORITY JOURNAL; RESPIRATORY ACIDOSIS; SEIZURE;

CHILD; FEMALE; GLYCINE; HUMANS; HYPERGLYCINEMIA, NONKETOTIC; INTELLECTUAL DISABILITY; MALE; SPASMS, INFANTILE;

EID: 84872867628     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812441063     Document Type: Article

References (17)

1. Hamosh A, Johnston MV The Metabolic and Molecular Bases of Inherited Disease. Scriver CR Beaudet AL Sly WS Valle D, ed. New York: McGraw-Hill ; 2001: 2065-2078.
2. Kikuchi G, Motokawa Y, Yoshida T, Hiraga K. Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia. Proc Jpn Acad Ser B Phys Biol Sci. 2008 ; 84: 246-263
3. Von Wendt L, Hirvasniemi A, Similä S.. Nonketotic hyperglycinemia. A genetic study of 13 Finnish families. Clin Genet. 1979 ; 15: 411-417
4. Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics. 2000 ; 105: e10
5. Flusser H, Korman SH, Sato K, Matsubara Y, Galil A, Kure S. Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. Neurology. 2005 ; 64: 1426-1430
6. Applegarth DA, Toone JR. Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Mol Genet Metab. 2001 ; 74: 139-146
7. Korman SH, Gutman A. Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia). Dev Med Child Neurol. 2002 ; 44: 712-720
8. Mortensen PB, Kolvraa S, Christensen E. Inhibition of the glycine cleavage system: hyperglycinemia and hyperglycinuria caused by valproic acid. Epilepsia. 1980 ; 21: 563-568
9. Morrison PF, Sankar R, Shields WD. Valproate-induced chorea and encephalopathy in atypical nonketotic hyperglycinemia. Pediatr Neurol. 2006 ; 35: 356-358
10. Ohya Y, Ochi N, Mizutani N, Hayakawa C, Watanabe K.. Nonketotic hyperglycinemia: Treatment with NMDA antagonist and consideration of neuropathogenesis. Pediatr Neurol. 1991 ; 7: 65-68
11. Dinopoulos A, Matsubara Y, Kure S. Atypical variants of nonketotic hyperglycinemia. Mol Genet Metab. 2005 ; 86: 61-69
12. Aburahma S, Khassawneh M, Griebel M, Sharp G, Gibson J. Pitfalls in measuring cerebrospinal fluid glycine levels in infants with encephalopathy. J Child Neurol. 2011 ; 26: 703-706
13. Aliefendioglu D, Aslan AT, Coskun T, Dursun A, Cakmak FN, Kesimer M. Transient nonketotic hyperglycinemia: two case reports and literature review. Pediatr Neurol. 2003 ; 28: 151-155
14. Susuzi Y, Kure S, Oota M, Hino H, Fukuda M. Nonketotic hyperglycinemia: proposal of a diagnosis and treatment strategy. Pediatr Neurol. 2010 ; 43: 221-224
15. Kanno J, Hutchin T, Kamada F, et al. Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. J Med Genet. 2007 ; 44: e69
16. Kure S. Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia). Brain Dev. 2011 ; 33: 753-757
17. Tan ES, Wiley V, Carpenter K, Wilcken B. Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. Mol Genet Metab. 2007 ; 90: 446-448