Clinical and genetic analysis of nonketotic hyperglycinemia: A case report.

ABSTRACT:

Background

Nonketotic hyperglycinemia (NKH) is a rare autosomal recessive genetic disorder of abnormal glycine metabolism caused by insufficient activity of the glycine cleavage enzyme system. Glycine is believed to function mainly as an inhibitory neurotransmitter, but it can also act as a co-agonist of the N-methyl-D-aspartate (NMDA) receptor. The accumulation of a large amount of glycine in the brain leads to neuronal and axonal injury via overactivation of NMDA receptors located in the hippocampus, cerebral cortex, olfactory bulb, and cerebellum and to stimulation of the inhibitory function of glycine receptors located in the spinal cord and brain stem, resulting in central apnea, hiccups, and hypotonia in the early stage of the disease.

Case summary

The child des

SUBMITTER: Ning JJ 

PROVIDER: S-EPMC9372859 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature