title: Neurologic sequelae in transient nonketotic hyperglycinemia of the neonate.
abstract: We report a neonate with the transient form of nonketotic hyperglycinemia manifested by extreme hypotonia, lethargy, apnea, and myoclonic and generalized convulsions in early neonatal life. Despite normalization of the biochemical values, severe neurologic sequelae were observed. This case suggests that the transient form of nonketotic hyperglycinemia sometimes causes severe brain damage.
authors.affiliation: Department of Pediatrics, University Hospital of Antwerp, Belgium.
authors.forename: F J
authors.initials: FJ
authors.lastname: Eyskens
authors.forename: J W
authors.initials: JW
authors.lastname: Van Doorn
authors.forename: P
authors.initials: P
authors.lastname: Mariën
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000134:cerebrospinal fluid / Q000150:complications*; D001927:Brain Diseases / Q000209:etiology*; D005998:Glycine / Q000032:analysis / Q000097:blood / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D008297:Male
chemical_list: D005998:Glycine