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Non-ketotic hyperglycinaemia in a neonate. A case report
T J De Ravel1, C E Smith, L G Scher
1Department of Paediatrics and Child Health, University of the Witwatersrand, Johannesburg.
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.