Literature DB >> 3585602

Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases.

K Hayasaka, K Tada, N Fueki, Y Nakamura, W L Nyhan, K Schmidt, S Packman, M R Seashore, E Haan, D M Danks.   

Abstract

The molecular nature of the glycine cleavage system was investigated in eight patients with typical (neonatal) and two patients with atypical (late onset) nonketotic hyperglycinemia (NKH). The overall activity of the glycine cleavage system was found to be decreased in all of the liver and brain tissue studied, but it was undetectable or extremely low in typical NKH, whereas there was some residual activity in atypical NKH. Six patients with typical NKH had a specific defect in the P protein, and one a defect in the T protein; the activity of the T protein was defective in one patient with atypical NKH.

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Year:  1987        PMID： 3585602     DOI： 10.1016/s0022-3476(87)80399-2

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  8 in total

1.  Genomic analysis of non-ketotic hyperglycinaemia: a partial deletion of P-protein gene.

Authors:  K Tada; S Kure; A Kume; K Hiraga
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Non-ketotic hyperglycinaemia: a therapeutic approach.

Authors:  I Apostolidou; C Papagaroufalis; H Michelakakis; C J Stephanidis; M Xanthou
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

3.  Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia.

Authors:  J M Neuberger; S Schweitzer; M O Rolland; R Burghard
Journal:  J Inherit Metab Dis       Date:  2000-02       Impact factor: 4.982

4.  Pulmonary hypertension associated with nonketotic hyperglycinaemia.

Authors:  S Cataltepe; L J van Marter; H Kozakewich; D L Wessel; P J Lee; H L Levy
Journal:  J Inherit Metab Dis       Date:  2000-03       Impact factor: 4.982

5.  Clinical effects of serine medication in non-ketotic hyperglycinaemia due to deficiency of P-protein of the glycine cleavage complex.

Authors:  F A Wijburg; C J de Groot; R B Schutgens; P G Barth; K Tada
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

6.  The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias.

Authors:  H Koyata; K Hiraga
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

7.  Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.

Authors:  S Kure; M Takayanagi; K Narisawa; K Tada; J Leisti
Journal:  J Clin Invest       Date:  1992-07       Impact factor: 14.808

8.  Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.

Authors:  K Nanao; K Okamura-Ikeda; Y Motokawa; D M Danks; E R Baumgartner; G Takada; K Hayasaka
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132
  8 in total

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