Non-ketotic hyperglycinaemia in a neonate. A case report.
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.
De Ravel
T J
TJ
Department of Paediatrics and Child Health, University of the Witwatersrand, Johannesburg.
Smith
C E
CE
Scher
L G
LG
Davies
V A
VA
Rothberg
A D
AD
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D005998:Glycine / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn
D005998:Glycine