Four cases of neonatal non-ketotic hyperglycinaemia.
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.
Atay
Enver
E
Zeynep Kamil Education and Research Hospital of Maternity and Children's Diseases, Istanbul, Turkey. enveratay@e-kolay.net
Bozaykut
Abdulkadir
A
Sezer
Gonul
G
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
D015415:Biomarkers; D005998:Glycine