Literature DB >> 3297708

Non-ketotic hyperglycinaemia: clinical and biochemical aspects.

K Tada, K Hayasaka.   

Abstract

Non-ketotic hyperglycinaemia is an autosomal recessive disorder of glycine metabolism characterized by elevated concentrations of glycine in plasma, urine and cerebrospinal fluid. The fundamental defect was found to lie in the glycine cleavage system. It is of significance that the major pathway for the catabolism of glycine was elucidated through the studies of hyperglycinaemia. The present knowledge about non-ketotic hyperglycinaemia is described in clinical and biochemical aspects.

Entities:  

Mesh：

Substances：

Year:  1987        PMID： 3297708     DOI： 10.1007/BF00716464

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  48 in total

1.  Letter: Failure of Leucovorin therapy in nonketotic hyperglycinemia.

Authors:  S P Speilberg; A W Lucky; J D Schulman; L I Kramer; L Hefner; S I Goodman
Journal:  J Pediatr       Date:  1976-10       Impact factor: 4.406

2.  Letter: Plasma-csf glycine ratio in normal and nonketotic hyperglycinemic subjects.

Authors:  C R Scriver; A White; W Sprague; S P Horwood
Journal:  N Engl J Med       Date:  1975-10-09       Impact factor: 91.245

3.  Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I.

Authors:  B CHILDS; W L NYHAN; M BORDEN; L BARD; R E COOKE
Journal:  Pediatrics       Date:  1961-04       Impact factor: 7.124

Review 4.  The glycine cleavage system: composition, reaction mechanism, and physiological significance.

Authors:  G Kikuchi
Journal:  Mol Cell Biochem       Date:  1973-06-27       Impact factor: 3.396

5.  A block in glycine cleavage reaction as a common mechanism in ketotic and nonketotic hyperglycinemia.

Authors:  K Tada
Journal:  Pediatr Res       Date:  1974-07       Impact factor: 3.756

6.  Glycine/serine ratios in amniotic fluid: an unreliable indicator for the prenatal diagnosis of nonketotic hyperglycinemia.

Authors:  C Mesavage; C S Nance; D B Flannery; D L Weiner; S F Suchy; B Wolf
Journal:  Clin Genet       Date:  1983-05       Impact factor: 4.438

7.  Progressive neurodegenerative disorder in a patient with nonketotic hyperglycinemia.

Authors:  D A Trauner; T Page; C Greco; L Sweetman; S Kulovich; W L Nyhan
Journal:  J Pediatr       Date:  1981-02       Impact factor: 4.406

8.  Nonketotic hyperglycinemia treated with strychnine, a glycine receptor antagonist.

Authors:  R Gitzelmann; B Steinmann; A Otten; G Dumermuth; M Herdan; J C Reubi; M Cuénod
Journal:  Helv Paediatr Acta       Date:  1978-02

9.  Glycine encephalopathy.

Authors:  B Dalla Bernardina; J Aicardi; F Goutières; P Plouin
Journal:  Neuropadiatrie       Date:  1979-08

10.  The neuropathology of the nonketotic and ketotic hyperglycinemias: three cases.

Authors:  R M Shuman; R W Leech; C R Scott
Journal:  Neurology       Date:  1978-02       Impact factor: 9.910
View more
  12 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.  A survey on prenatal diagnosis of inherited metabolic diseases in Japan.

Authors:  K Tada; J Aikawa; Y Igarashi; K Hayasaka; K Narisawa; M Owada; T Kitagawa
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  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

4.  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

5.  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

6.  X-ray structure determination at 2.6-A resolution of a lipoate-containing protein: the H-protein of the glycine decarboxylase complex from pea leaves.

Authors:  S Pares; C Cohen-Addad; L Sieker; M Neuburger; R Douce
Journal:  Proc Natl Acad Sci U S A       Date:  1994-05-24       Impact factor: 11.205

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.  Crystal structure of aminomethyltransferase in complex with dihydrolipoyl-H-protein of the glycine cleavage system: implications for recognition of lipoyl protein substrate, disease-related mutations, and reaction mechanism.

Authors:  Kazuko Okamura-Ikeda; Harumi Hosaka; Nobuo Maita; Kazuko Fujiwara; Akiyasu C Yoshizawa; Atsushi Nakagawa; Hisaaki Taniguchi
Journal:  J Biol Chem       Date:  2010-04-06       Impact factor: 5.157

9.  Use of placental enzyme analysis in assessment of the newborn at risk for non-ketotic hyperglycinaemia (NKH).

Authors:  J R Toone; D A Applegarth
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

10.  Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.

Authors:  Sarah L Nickerson; Shanti Balasubramaniam; Philippa A Dryland; Jennifer M Love; Maina P Kava; Donald R Love; Debra O Prosser
Journal:  J Pediatr Genet       Date:  2016-06-15
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.