The Role of Excitotoxicity, Oxidative Stress and Bioenergetics Disruption in the Neuropathology of Nonketotic Hyperglycinemia.
Neurotox Res
; 42(4): 32, 2024 Jun 29.
Article
in En
| MEDLINE
| ID: mdl-38949693
ABSTRACT
Nonketotic hyperglycinemia (NKH) is an inherited disorder of amino acid metabolism biochemically characterized by the accumulation of glycine (Gly) predominantly in the brain. Affected patients usually manifest with neurological symptoms including hypotonia, seizures, epilepsy, lethargy, and coma, the pathophysiology of which is still not completely understood. Treatment is limited and based on lowering Gly levels aiming to reduce overstimulation of N-methyl-D-aspartate (NMDA) receptors. Mounting in vitro and in vivo animal and human evidence have recently suggested that excitotoxicity, oxidative stress, and bioenergetics disruption induced by Gly are relevant mechanisms involved in the neuropathology of NKH. This brief review gives emphasis to the deleterious effects of Gly in the brain of patients and animal models of NKH that may offer perspectives for the development of novel adjuvant treatments for this disorder.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Oxidative Stress
/
Hyperglycinemia, Nonketotic
/
Energy Metabolism
/
Glycine
Limits:
Animals
/
Humans
Language:
En
Journal:
Neurotox Res
Journal subject:
NEUROLOGIA
Year:
2024
Document type:
Article
Affiliation country:
Brazil
Country of publication:
United States