Eyskens F J, Van Doorn J W, Mariën P
Department of Pediatrics, University Hospital of Antwerp, Belgium.
J Pediatr. 1992 Oct;121(4):620-1. doi: 10.1016/s0022-3476(05)81158-8.
We report a neonate with the transient form of nonketotic hyperglycinemia manifested by extreme hypotonia, lethargy, apnea, and myoclonic and generalized convulsions in early neonatal life. Despite normalization of the biochemical values, severe neurologic sequelae were observed. This case suggests that the transient form of nonketotic hyperglycinemia sometimes causes severe brain damage.