Prognostic clues and outcome of early treatment of nonketotic hyperglycinemia

Pediatric Neurology

Volumn 15, Issue 2, 1996, Pages 137-141

  Boneh, Avihu ^a   Degani, Yaron ^a   Harari, Michael ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; BENZOIC ACID; CARBAMAZEPINE; DEXTROMETHORPHAN; DIAZEPAM; GLYCINE; KETAMINE; N METHYL DEXTRO ASPARTIC ACID RECEPTOR BLOCKING AGENT; STRYCHNINE;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD LEVEL; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; ELECTROENCEPHALOGRAM; FEMALE; HUMAN; HYPERGLYCINEMIA; INFANT; MALE; MEDICAL RECORD; NEUROLOGIC DISEASE; OCCUPATIONAL THERAPY; ORAL DRUG ADMINISTRATION; PHYSIOTHERAPY; PRIORITY JOURNAL; PROGNOSIS; SEIZURE; TREATMENT OUTCOME;

EID: 0030248468     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/0887-8994(96)00158-0     Document Type: Article

References (28)

1. [1] Nyhan WL. Nonketotic hyperglycinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Diseases, 6th ed. New York: McGraw Hill, 1989:743-53.
2. [2] Hayasaka K, Tada K, Fueki N, et al. Nonketotic hyperglycinemia: Analysis of glycine cleavage system in typical and atypical cases. J Pediatr 1987;110:873-7.
3. [3] Tada K, Kure S. Nonketotic hyperglycinemia: molecular lesion, diagnosis and pathophysiology. J Inherited Metab Dis 1993;16:691-703.
4. [4] Luder AS, Davisdon A, Goodman SI, Green CL. Transient nonketotic hyperglycinemia in neonates. J Pediatr 1989;114:1013-5.
5. [5] Schiffmann R, Kaye EM, Willis JK, Africk D, Ampola M. Transient neonatal hyperglycinemia. Ann Neurol 1989;25:201-3.
6. [7] Rothman SM, Olney JW. Excitotoxicity and the NMDA receptor. Trends Neurosci 1987;10:299-302.
7. [8] Thomson AM, Walker VE, Flynn DM. Glycine enhances NMDA-receptor mediated synaptic potentials in neocortical slices. Nature 1989;338:422-4.
8. [9] Schiffmann R, Boneh A, Ergaz Z, Glick B. Nonketotic hyperglycinemia presenting with pin-point pupils and hyperammonemia. Isr J Med Sci 1992;28:91-3.
9. [10] Lahoya JL, Benavides J, Ugarte M. Glycine metabolism and glycine synthase activity during the postnatal development of rat brain. Dev Neurosci 1980;3:75.
10. [11] Schumann RB, Leech RW, Scott CR. The neuropathology of the nonketotic and ketotic hyperglycinemias: Three cases. Neurology 1978;28:139-46.
11. [12] Von Wendt L, Simila LS, Saukkonen A-L, Kiovisto M, Kouvalainen. Prenatal brain damage in nonketotic hyperglycinemia. Am J Dis Child 1981;135:1072.
12. [13] Takahashi T, Momiyama A, Hirai K, Histinuma F, Akagi H. Functional correlation of fetal and adult forms of glycine receptors with developmental changes in inhibitory synaptocreceptor channels. Neuron 1992;9:1155-61.
13. [14] Insel TR, Miller LP, Gelhard RE. The ontogeny of excitatory amino acid receptors in rat forebrain-I. N-methyl-D-aspartate and quisqualate receptors. Neuroscience 1990;35:21-43.
14. [14] Watanabe M, Inoue Y, Sakimura K, Mishina M. Developmental changes in distribution of NMDA receptor channel subunit mRNAs. NeuroReport 1992;3:1138-40.
15. 3H]-MK-801 binding in human temporal cortex. Br J Pharmacol 1993;108:1143-9.
16. [16] Gitzelmann R, Steinmann B, Otten A, et al. Nonketotic hyperglycinemia treated with strychnine, a glycine receptor antagonist. Helv Paediatr Acta 1977;32:517-25.
17. [17] Arensen D, bCh'ien L, Chance P, Wilroy RS. Strychnine therapy in nonketotic hyperglycinemia. Pediatrics 1979;63:369-73.
18. [18] MacDermot KD, Nelson V, Reichert CM, Schulman JD. Attempts at use of strychnine sulphate in the treatment of nonketotic hyperglycinemia. Pediatrics 1980;65:61-4.
19. [19] Von Wendt L, Similar LA, Saukkonen A-L, Kiovisto M. Failure of strychnine treatment during the neonatal period in three Finnish children with nonketotic hyperglycinemia. Pediatrics 1980;65:1166-9.
20. [20] Matalon R, Naidu S, Hughes JR, Michals K. Nonketotic hyperglycinemia: Treatment with diazepam - A competitor for glycine receptors. Pediatrics 1983;71:581-4.
21. [21] Hamosh A, McDonald JW, Valle D, Francomano CA, Niedermeyer E, Johnston MV. Dextromethorphan and high dose benzoate therapy for nonketotic hyperglycinemia in an infant. J Pediatr 1992;21: 131-5.
22. [22] Zammarchi E, Donati MA, Ciani F, Pasquini E, Pela I, Fiorini P. Failure of early dextromethorphan and sodium benzoate therapy in an infant with nonketotic hyperglycinemia. Neuropediatrics 1994;25:274-6.
23. [23] Arnold GL, Griebel ML, Valentine JL, Kearns GL. Dextromethorphan metabolism in nonketotic hyperglycinemia (Abstract W 2.7). VI International Congress of Inborn Errors of Metabolism, Milan, Italy, May 27-31, 1994:55.
24. [24] Ohya Y, Ochi N, Mizutani N, Hayakawa C, Watanabe K. Nonketotic hyperglycinemia: Treatment with NMDA antagonist and consideration of neuropathogenesis. Pediatr Neurol 1991;7:65-8.
25. [25] Kharasch ED, Labroo R. Metabolism of ketamine stereoisomers by human liver microsomes. Anesthesiology 1992;77:1201-7.
26. [26] Nanao K, Okamura-Ikeda K, Motokawa Y, et al. Identification of the mutations in the T-protein gene causing typical and a typical nonketotic hyperglycinemia. Hum Genet 1994;93:655-8.
27. [27] Steiner RD, Sweetser DA, Rohbaugh RJ, Dowton B, Toone JR, Applegarth DA. Nonketotic hyperglycinemia: Atypical clinical and biochemical manifestations. J Pediatr 1996;128:243-6.
28. [28] Van Hove JLK, Kishnani P, Muenzer J, et al. Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia. Am J Med Genet 1995;59:444-53.