Title: Non-ketotic hyperglycinaemia in a neonate. A case report
Authors: de Ravel de l'Argentière, Thomy ×
Smith, C E
Scher, L G
Davies, V A
Rothberg, A D #
Issue Date: Aug-1991
Series Title: South African Medical Journal vol:80 issue:4 pages:201-2
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.
ISSN: 0256-9574
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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