PDF herunterladen
Neuropediatrics 2012; 43(03): 164-167
DOI: 10.1055/s-0032-1313914
Short Communication
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

A Known and a Novel Mutation in the Glycine Decarboxylase Gene in a Newborn with Classic Nonketotic Hyperglycinemia

P. Beijer
1   Department of Neonatology, Wilhelmina Children's Hospital, University Medical Centre Utrecht, The Netherlands
,
K.D. Lichtenbelt
2   Department of Medical Genetics, Wilhelmina Children's Hospital, Utrecht, The Netherlands
,
F.C. Hofstede
3   Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Centre Utrecht Utrecht, The Netherlands
,
P.G.J Nikkels
4   Department of Pathology, University Medical Center Utrecht, The Netherlands
,
P. Lemmers
1   Department of Neonatology, Wilhelmina Children's Hospital, University Medical Centre Utrecht, The Netherlands
,
L.S. de Vries
1   Department of Neonatology, Wilhelmina Children's Hospital, University Medical Centre Utrecht, The Netherlands
› Institutsangaben
Weitere Informationen

Publikationsverlauf

13. November 2011

20. März 2012

Publikationsdatum:
19. Mai 2012 (online)

    Lizenzen und Reprints

Abstract

A term neonate displayed typical features of nonketotic hyperglycinemia (NKH). Conventional magnetic resonance imaging showed corpus callosum hypoplasia and increased signal intensity of the white matter. Magnetic resonance proton spectroscopy revealed high cerebral glycine levels. The liquor/plasma glycine ratio was increased. Genetic testing detected a known and a novel mutation in the glycine decarboxylase gene, leading to the classic form of glycine encephalopathy. Prenatal genetic testing in the subsequent pregnancy showed that this fetus was not affected. As features of neonatal NKH may not be very specific, recognition of the disease may be difficult. An overview of clinical, electroencephalography, and neuroimaging findings is given in this article.

Keywords

newborn - nonketotic hyperglycinemia - mutation
 

  • References

  • 1 Lu FL, Wang P, Hwu W, Tsou Yau K, Wang T. Neonatal type of nonketotic hyperglycinemia. Pediatr Neurol 1999; 20: 295-300
    CrossrefPubMedGoogle Scholar
  • 2 Boneh A, Allan S, Mendelson D, Spriggs M, Gillam LH, Korman SH. Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia. Mol Genet Metab 2008; 94 (2) 143-147
    CrossrefPubMedGoogle Scholar
  • 3 Dinopoulos A, Matsubara Y, Kure S. Atypical variants of nonketotic hyperglycinemia. Mol Genet Metab 2005; 86 (1-2) 61-69
    CrossrefPubMedGoogle Scholar
  • 4 Hoover-Fong JE, Shah S, Van Hove JLK, Applegarth D, Toone J, Hamosh A. Natural history of nonketotic hyperglycinemia in 65 patients. Neurology 2004; 63 (10) 1847-1853
    CrossrefPubMedGoogle Scholar
  • 5 Kure S. Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia). Brain Dev 2011; 33 (9) 753-757
    CrossrefPubMedGoogle Scholar
  • 6 Shah DK, Tingay DG, Fink AM, Hunt RW, Dargaville PA. Magnetic resonance imaging in neonatal nonketotic hyperglycinemia. Pediatr Neurol 2005; 33 (1) 50-52
    CrossrefPubMedGoogle Scholar
  • 7 Aliefendioğlu D, Tana Aslan A, Coşkun T, Dursun A, Cakmak FN, Kesimer M. Transient nonketotic hyperglycinemia: two case reports and literature review. Pediatr Neurol 2003; 28 (2) 151-155
    CrossrefPubMedGoogle Scholar
  • 8 Mourmans J, Majoie CBLM, Barth PG, Duran M, Akkerman EM, Poll-The BT. Sequential MR imaging changes in nonketotic hyperglycinemia. AJNR Am J Neuroradiol 2006; 27 (1) 208-211
    PubMedGoogle Scholar
  • 9 Kure S, Kato K, Dinopoulos A , et al. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Hum Mutat 2006; 27 (4) 343-352
    CrossrefPubMedGoogle Scholar
  • 10 Korman SH, Gutman A. Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia). Dev Med Child Neurol 2002; 44 (10) 712-720
    PubMedGoogle Scholar
  • 11 Applegarth DA, Toone JR, Rolland MO, Black SH, Yim DK, Bemis G. Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses. Prenat Diagn 2000; 20 (5) 367-370
    CrossrefPubMedGoogle Scholar