Literature DB >> 21471552

Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia.

Shu-Hao Wei1, Wen-Chin Weng, Ni-Chung Lee, Wu-Lian Hwu, Wang-Tso Lee.   

Abstract

Non-ketotic hyperglycinemia is a disorder of glycine metabolism with severe neurologic regression in the infantile stage, while late-onset non-ketotic hyperglycinemia is a rare form characterized by variable clinical, biochemical, and imaging features. This report describes a boy of late-onset non-ketotic hyperglycinemia presenting with an unusual long tract-like lesion of the spinal cord aside by magnetic resonance imaging. This is the first reported child of non-ketotic hyperglycinemia with abnormal imaging features of spinal cord.

Entities:  

Mesh:

Year:  2011        PMID: 21471552     DOI: 10.1177/0883073810393965

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  6 in total

1.  Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Authors:  Peter R Baker; Marisa W Friederich; Michael A Swanson; Tamim Shaikh; Kaustuv Bhattacharya; Gunter H Scharer; Joseph Aicher; Geralyn Creadon-Swindell; Elizabeth Geiger; Kenneth N MacLean; Wang-Tso Lee; Charu Deshpande; Mary-Louise Freckmann; Ling-Yu Shih; Melissa Wasserstein; Malene B Rasmussen; Allan M Lund; Peter Procopis; Jessie M Cameron; Brian H Robinson; Garry K Brown; Ruth M Brown; Alison G Compton; Carol L Dieckmann; Renata Collard; Curtis R Coughlin; Elaine Spector; Michael F Wempe; Johan L K Van Hove
Journal:  Brain       Date:  2013-12-11       Impact factor: 13.501

2.  Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Authors:  Wei-Xing Feng; Xiu-Wei Zhuo; Zhi-Mei Liu; Jiu-Wei Li; Wei-Hua Zhang; Yun Wu; Tong-Li Han; Fang Fang
Journal:  Front Genet       Date:  2021-05-13       Impact factor: 4.599

3.  Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.

Authors:  Joseph T Alaimo; Arnaud Besse; Charlotte L Alston; Ki Pang; Vivek Appadurai; Monisha Samanta; Patroula Smpokou; Robert McFarland; Robert W Taylor; Penelope E Bonnen
Journal:  Hum Mutat       Date:  2018-01-22       Impact factor: 4.878

4.  GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.

Authors:  Bindu Parayil Sankaran; Sachin Gupta; Michel Tchan; Beena Devanapalli; Yusof Rahman; Peter Procopis; Kaustuv Bhattacharya
Journal:  Orphanet J Rare Dis       Date:  2021-11-03       Impact factor: 4.123

Review 5.  Iron-sulfur cluster biogenesis, trafficking, and signaling: Roles for CGFS glutaredoxins and BolA proteins.

Authors:  Evan A Talib; Caryn E Outten
Journal:  Biochim Biophys Acta Mol Cell Res       Date:  2020-09-07       Impact factor: 4.739

6.  A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate.

Authors:  Sadık Yurttutan; Mehmet Yekta Oncel; Nursel Yurttutan; Halil Degirmencioglu; Nurdan Uras; Ugur Dilmen
Journal:  Korean J Pediatr       Date:  2015-06-22
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.