title: Four cases of neonatal non-ketotic hyperglycinaemia.
abstract: Non-ketotic hyperglycinaemia is an autosomal recessive disorder of glycine metabolism caused by a defect in the glycine cleavage system. Affected neonates present with lethargy, feeding difficulty, hypotonia, apnoea, poorly controlled convulsions and coma. Four cases are reported, three of whom died in the neonatal period. The fourth case was treated with dextromethorphan and sodium benzoate. He survived with neurodevelopmental delay but is now almost seizure-free.
authors.affiliation: Zeynep Kamil Education and Research Hospital of Maternity and Children's Diseases, Istanbul, Turkey. enveratay@e-kolay.net
authors.forename: Enver
authors.initials: E
authors.lastname: Atay
authors.forename: Abdulkadir
authors.initials: A
authors.lastname: Bozaykut
authors.forename: Gonul
authors.initials: G
authors.lastname: Sezer
mesh_terms: D015415:Biomarkers / Q000097:blood / Q000134:cerebrospinal fluid; D017809:Fatal Outcome; D005998:Glycine / Q000097:blood / Q000134:cerebrospinal fluid; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000097:blood / Q000134:cerebrospinal fluid / Q000175:diagnosis*; D007231:Infant, Newborn; D008297:Male
chemical_list: D015415:Biomarkers; D005998:Glycine