title: Nystagmus and subnormal electroretinographic response in nonketotic hyperglycinemia.
abstract: We examined ophthalmologically two siblings with nonketotic hyperglycinemia who had negligible activities of glycine cleavage system in the liver. Both had jerky nystagmus. The elder brother had a normal electroretinographic response, while the younger brother's response was subnormal. There may be a close association of subnormal electroretinographic response and hyperglycinemia, because glycine can act as an inhibitory neurotransmitter in the retina.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000150:complications* / Q000235:genetics; D004596:Electroretinography; D005998:Glycine / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009759:Nystagmus, Pathologic / Q000150:complications*
chemical_list: D005998:Glycine