Nonketotic hyperglycinemia: Biochemical, molecular, and neurological aspects

Japanese Journal of Human Genetics

Volumn 42, Issue 1, 1997, Pages 13-22

  Kure, Shigeo ^a   Tada, Keiya ^a   Narisawa, Kuniaki ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DEXTROMETHORPHAN; GLYCINE; N METHYL DEXTRO ASPARTIC ACID RECEPTOR;

AMINO ACID BRAIN LEVEL; ANIMAL TISSUE; CASE REPORT; CONFERENCE PAPER; ENZYME ACTIVITY; ENZYME STRUCTURE; HIPPOCAMPUS; HUMAN; HYPERGLYCEMIA; LYMPHOBLAST; NEWBORN; NONHUMAN; RAT;

ANIMALIA; BULBUS;

EID: 0030958281     PISSN: 09168478     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02766917     Document Type: Conference Paper

References (31)

1. Craigen WJ (1996): Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. Pediatr Neurol 14: 69-71
2. Fujiwara K, Okamura-Ikeda K, Hayasaka K, Motokawa Y (1991): The primary structure of human H-protein of the glycine cleavage system deduced by cDNA cloning. Biochem Biophys Res Commun 176: 711-716
3. Fujiwara K, Okamura-Ikeda K, Motokawa Y (1986): Chicken liver H-protein, a component of the glycine cleavage system. Amino acid sequence and identification of the N epsilonlipoyllysine residue. J Biol Chem 261: 8836-8841
4. Fujiwara K, Okamura-Ikeda K, Motokawa Y (1987): Amino acid sequence of the phosphopyridoxyl peptide from P-protein of the chicken liver glycine cleavage system. Biochem Biophys Res Commun 149: 621-627
5. Hamosh A, Johnston MV, Valle D (1995): Nonketotic hyperglycinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp 1337-1348
6. Hamosh A, McDonald JW, Valle D, Francomano CA, Niedermeyer E, Johnston MV (1992): Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infam. J Pediatr 121: 131-135
7. Hayasaka K, Nanao K, Takada G, Okamura-Ikeda K, Motokawa Y (1993): Isolation and sequence determination of cDNA encoding human T-protein of the glycine cleavage system. Biochem Biophys Res Commun 192: 766-771
8. Hayasaka K, Tada K, Fueki N, Nakamura Y, Nyhan WL, Schmidt K, Packman S, Seashore MR, Haan E, Danks DM, et al. (1987): Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases. J Pediatr 110: 873-877
9. Hayasaka K, Tada K, Kikuchi G, Winter S, Nyhan WL (1983): Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system. Pediatr Res 17: 967-970
10. Iwama H, Takahashi K, Kure S, Hayashi F, Narisawa K, Tada K, Mizoguchi M, Takashima S, Tomita U, Nishikawa T (1997): Depletion of cerebral D-serine in non-ketotic hyperglycinemia: possible involvement of glycine cleavage system in control of endogenous D-serine. Biochem Biophys Res Commun (in press)
11. Kikuchi G (1973): The glycine cleavage system: composition, reaction mechanism, and physiological significance. Mol Cell Biochem 1: 169-187
12. Kikuchi G, Hiraga K, Yoshida T (1980): Role of the glycine-cleavage system in glycine and serine metabolism in various organs. Biochem Soc Trans 8: 504-506
13. Koyata H, Hiraga K (1991): The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias. Am J Hum Genet 48: 351-361
14. Kume A, Koyata H, Sakakibara T, Ishiguro Y, Kure S, Hiraga K (1991): The glycine cleavage system. Molecular cloning of the chicken and human glycine decarboxylase cDNAs and some characteristics involved in the deduced protein structures. J Biol Chem 266: 3323-3329
15. Kume A, Kure S, Tada K, Hiraga K (1988): The impaired expression of glycine decarboxylase in patients with hyperglycinemias. Biochem Biophys Res Commun 154: 292-297
16. Kure S, Koyata H, Kume A, Ishiguro Y, Hiraga K (1991a): The glycine cleavage system. The coupled expression of the glycine decarboxylase gene and the H-protein gene in the chicken. J Biol Chem 266: 3330-3334
17. Kure S, Narisawa K, Tada K (1991b): Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: Three-base deletion in mRNA causes nonketotic hyperglycinemia. Biochem Biophys Res Commun 174: 1176-1182
18. Kure S, Narisawa K, Tada K (1992a): Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts. J Pediatr 120: 95-98
19. Kure S, Narisawa K, Tada K (1995): The glycine cleavage system in astrocytes: Its physiological role revealed by study of hyperglycinemia. J Neurochem 65: S125
20. Kure S, Takayanagi M, Narisawa K, Tada K, Leisti J (1992b): Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. J Clin Invest 90: 160-164
21. Motokawa Y, Kikuchi G (1972): Isolation and partial characterization of the components of the reversible glycine cleavage system of rat liver mitochondria. J Biochem 72: 1281-1284
22. Nanao K, Takada G, Takahashi E, Seki N, Komatsu Y, Okamura-Ikeda K, Motokawa Y, Hayasaka K (1994): Structure and chromosomal localization of the aminomethyltransferase gene (AMT). Genomics 19: 27-30
23. Ohya Y, Ochi N, Mizutani N, Hayakawa C, Watanabe K (1991): Nonketotic hyperglycinemia: Treatment with NMDA antagonist and consideration of neuropathogenesis. Pediatr Neurol 7: 65-68
24. Okamura-Ikeda K, Fujiwara K, Yamamoto M, Hiraga K, Motokawa Y (1991): Isolation and sequence determination of cDNA encoding T-protein of the glycine cleavage system. J Biol Chem 266: 4917-4921
25. Okamura-Ikeda K, Ohmura Y, Fujiwara K, Motokawa Y (1993): Cloning and nucleotide sequence of the gcv operon encoding the Escherichia coli glycine-cleavage system. Eur J Biochem 216: 539-548
26. Sato K, Yoshida S, Fujiwara K, Tada K, Tohyama M (1991): Glycine cleavage system in astrocytes. Brain Res 567: 64-70
27. Tada K (1987): Nonketotic hyperglycinemia: clinical and metabolic aspects. Enzyme 38: 27-35
28. Tada K, Hayasaka K (1987): Nonketotic hyperglycinemia: clinical and biochemical aspects. Eur J Pediatr 146: 221-227
29. Tada K, Narisawa K, Yoshida T, Yokoyama K, Nakagawa H, Tanno K, Mochizuki K, Arakawa T, Yoshida T, Kikuchi G (1969): Hyperglycinemia: a defect in glycine cleavage reaction. Tohoku J Exp Med 98: 289-296
30. Wendt L, Hirvasniemi A, Similä S (1979): Nonketotic hyperglycinemia: A genetic study of 13 Finish families. Clin Genet 15: 411-417
31. Yamamoto M, Koyata H, Matsui C, Hiraga K (1991): The glycine cleavage system: Occurrence of two types of chicken H-protein mRNAs presumably formed by the alternative use of the polyadenylation consensus sequences in a single exon. J Biol Chem 266: 3317-3322