Prediction of long-term outcome in glycine encephalopathy: A clinical survey

Journal of Inherited Metabolic Disease

Volumn 35, Issue 2, 2012, Pages 253-261

  Hennermann, Julia B ^a   Berger, Jeanne Marie ^a,b   Grieben, Ulrike ^a,c   Scharer, Gunter ^d   Van Hove, Johan L K ^d,e  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b Medizinische Einrichtungen des Bezirks Oberpfalz ^*  (Germany)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d Children's Hospital Colorado   (United States)

^e UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

BACLOFEN; BENZOIC ACID; DEXTROMETHORPHAN; FELBAMATE; GLYCINE; PHENOBARBITAL; STRYCHNINE; VALPROIC ACID;

BLOOD LEVEL; BRAIN MALFORMATION; CEREBROSPINAL FLUID LEVEL; CHILD DEVELOPMENT; CHILDHOOD MORTALITY; CLINICAL ARTICLE; COMA; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DIET THERAPY; DISEASE ASSOCIATION; ELECTROENCEPHALOGRAM; FEMALE; GASTROINTESTINAL SYMPTOM; HICCUP; HUMAN; HYPERGLYCINEMIA; HYPSARRHYTHMIA; INFANT; LONG TERM CARE; MALE; MENTAL DEVELOPMENT; MICROCEPHALY; MUSCLE HYPOTONIA; NEUROIMAGING; NEWBORN; NEWBORN PERIOD; ONSET AGE; OUTCOME ASSESSMENT; PATIENT COMPLIANCE; PREDICTIVE VALUE; PREGNANCY COMPLICATION; REVIEW; SCORING SYSTEM; SEVERITY SCORE SYSTEM; SMALL FOR DATE INFANT; UNSPECIFIED SIDE EFFECT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; HYPERGLYCINEMIA, NONKETOTIC; INFANT; MALE; PREGNANCY; PREGNANCY COMPLICATIONS; PRENATAL DIAGNOSIS; PROGNOSIS; TIME; YOUNG ADULT;

EID: 84863423979     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9398-1     Document Type: Review

References (30)

1. Applegarth DA, Toone JR (2001) Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Mol Genet Metab 74:139-146
2. Applegarth DA, Toone JR (2004) Workshop report. Glycine enceph- alopathy (nonketotic hyperglycinemia): review and update. J Inherit Metab Dis 27:417-422
3. Applegarth DA, Toone JR, Lowry RB (2000) Incidence of inborn errors ofmetabolism in British Columbia, 1969-1996. Pediatrics 105:e10
4. Boneh A, Degani Y, Harari M (1996) Prognostic clues and outcome of early treatment of nonketotic hyperglycinemia. Pediatr Neurol 15:137-141
5. Boneh A, Allan S, Mendelson D, Spriggs M, Gillam LH, Korman SH (2008) Clinical, ethical, and legal considerations in the treatment of newborns with non-ketotic hyperglycinemia. Mol Genet Metab 94:143-147
6. Breitkreutz J, Bornhöft M, Wöll F, Kleinebudde P (2003a) Pediatric drug formulations of sodium benzoate: I. Coated granules with a hydrophilic binder. Eur J Pharm Biopharm 56:247-253
7. Breitkreutz J, El-Saleh F, Kiera C, Kleinebudde P, Wiedey W (2003b) Pediatric drug formulations of sodium benzoate: II. Coated granules with a lipophilic binder. Eur J Pharm Biopharm 56:255-260
8. Brunel-Guitton C, Casey B, Coulter-Mackie M et al. (2011) Late- onset nonketotic hyperglycinemia caused by a novel homozy- gous missense mutation in the GLDC gene. Mol Genet Metab 103:193-196
9. Busanello EN, Moura AP, Viegas CM et al. (2010) Neurochemical evidence that glycine induces bioenergetical dysfunction. Neurochem Int 56:948-954
10. Carson NAJ (1982) Non-ketotic hyperglycinemia - a review of 70 patients. J Inheret Metab Dis 5(Suppl 2):126-128
11. Dinopoulos A, Matsubara Y, Kure S (2005) Atypical variants of nonketotic hyperglycinemia. Mol Genet Metab 86:61-69
12. Fletcher JM, Bye AM, Nayannar V, Wilcken B (1995) Non-ketotic hyperglycinaemia presenting as pachygyria. J Inherit Metab Dis 18:665-668
13. Hall DA, Ringel SP (2004) Adult nonketotic hyperglycinemia (NKH) crisis presenting as severe chorea and encephalopathy. Mov Disord 19:485-486
14. Hamosh A, Johnston MV (2001) The metabolic and molecular bases ofinherited disease. In: Sciver CR, BeaudetAL, Sly WS, Valle D (eds) Nonketotic hyperglycinemia, 8th edn. McGraw-Hill, New York, pp 2065-2078
15. Hamosh A, Mcdonald JW, Valle D, Francomano CA, Niedermeyer E, Johnston MV (1992) Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant. J Pediatr 132:709-713
16. Harty TP, Rogawski MA (2000) Felbamate block of recombinant N- methyl-D-aspartate receptors: selectivity for the NR2B subunit. Epilepsy Res 39:47-55
17. Hennermann JB (2006) Clinical variability in glycine encephalopathy. FutureNeurol 1:621-630
18. Hoover-Fong JE, Shah S, Van Hove JLK, Applegarth D, Toone J, Hamosh A (2004) Natural history ofnonketotic hyperglycinemia in 65 patients. Neurology 63:1847-1853
19. Jones CM, Smith M, Henderson MJ (2006) Reference data for cerebrospinal fluid and the utility of amino acid measurement for the diagnosis of inborn errors of metabolism. Ann Clin Biochem 43:63-66
20. Korman SH, Boneh A, Ichinohe A, Kojima K, Sato K, Ergaz Z, Gomori JM, Gutman A, Kure S (2004) Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation. Ann Neurol 56:139-143
21. Kure S, Ichinohe A, Kojima K, Sato K, Kizaki Z, Inoue F, Yamanaka C, Matsubara Y (2004) Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients. J Pediatr 144:827-829
22. Morrison PF, Sankar R, Shields WD (2006) Valproate-induced chorea and encephalopathy in atypical nonketotic hyperglycinemia. Pediatr Neurol 35:356-358
23. Nguyen L, Rigo J-M, Rocher V et al. (2001) Neurotransmitters as early signal for central nervous system development. Cell Tissue Res 305:187-202
24. Schmitt B, Steinmann B, Gitzelmann R, Thun-Hohenstein L, Mascher H, Dumermuth G (1993) Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextromethorphan, an antagonist of the NMDA receptor. Neurology 43:421-424
25. Tada K, Kure S (1993) Non-ketotic hyperglycinemia: molecular lesion, diagnosis, and pathophysiology. J Inherit Metab Dis 16:691-703
26. Van Hove JLK, Kishnani P, Muenzer J et al. (1995) Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia. Am J Med Genet 59:444-453
27. Van Hove JLK, Kishnani PS, Demaerel P et al. (2000) Acute hydrocephalus in nonketotic hyperglycinemia. Neurology 54:754-756
28. Van Hove JLK, Vande Kerckhove K, Hennermann JB et al. (2005) Benzoate treatment and the glycine index in nonketotic hyper- glycinemia. J Inherit Metab Dis 28:651-663
29. Wolff JA, Kulovich S, Yu AL, Qiao CN, Nyhan WL (1986) The effectiveness of benzoate in the management of seizures in nonketotic hyperglycinemia. Am J Dis Child 140:596-602
30. Yis U, Kurul SH, Dirik E (2009) Nonketotic hyperglycinemia and acquired hydrocephalus. Pediatr Neurol 40:138-140