title: Non-ketotic hyperglycinaemia in a neonate. A case report.
abstract: Non-ketotic hyperglycinaemia was diagnosed in a newborn infant presenting with lethargy, apnoea, hiccoughs and myoclonic seizures. The typical findings of raised cerebrospinal fluid:plasma glycine ratio, a burst suppression pattern on electro-encephalography, hypodense areas seen on computed tomography and lack of acidosis, ketosis and serum organic acid abnormality confirmed the diagnosis. Prenatal diagnosis by investigating the glycine cleavage enzyme system from a chorionic villus sample is not yet available.
authors.affiliation: Department of Paediatrics and Child Health, University of the Witwatersrand, Johannesburg.
authors.forename: T J
authors.initials: TJ
authors.lastname: De Ravel
authors.forename: C E
authors.initials: CE
authors.lastname: Smith
authors.forename: L G
authors.initials: LG
authors.lastname: Scher
authors.forename: V A
authors.initials: VA
authors.lastname: Davies
authors.forename: A D
authors.initials: AD
authors.lastname: Rothberg
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D005998:Glycine / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn
chemical_list: D005998:Glycine