Literature DB >> 8320601

Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts.

J Christodoulou1, S Kure, K Hayasaka, J T Clarke.   

Abstract

A 13-year-old girl with early-onset, mild, slowly progressive mental retardation caused by nonketotic hyperglycinemia is described. The plasma and cerebrospinal fluid glycine concentrations were elevated, but the cerebrospinal fluid/plasma glycine ratio was only mildly elevated. The diagnosis was confirmed by demonstration of a defect in the activity of the glycine cleavage system in cultured lymphoblasts.

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 8320601     DOI： 10.1016/s0022-3476(05)81550-1

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


  3 in total

1.  Non-kinetic hyperglycinaemia: prolonged survival in a patient with a mild variant.

Authors:  J E Wraith
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  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

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
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.