- Turkish Journal of Medical Sciences
- Vol: 32 Issue: 1
- A Rare Case of Neonatal Hypotonia: Neonatal Nonketotic Hyperglycinemia
A Rare Case of Neonatal Hypotonia: Neonatal Nonketotic Hyperglycinemia
Authors : Ayhan Taştekin
Pages : 73-75
View : 10 | Download : 5
Publication Date : 9999-12-31
Article Type : Makaleler
Abstract :Hypotonia is a serious physical finding in a newborn infant. Nonketotic hyperglycinemia (NKH) is a rare cause of neonatal hypotonia. It is a defect of the glycine metabolism and has poor prognosis. We report a case of a newborn infant with NKH, presented with mild hypotonia and high creatine kinase values. NKH should be considered in a hypotonic newborn, especially if associated with acute deterioration, lethargy and seizures.Keywords : Nonketotic hyperglycinemia, hypotonia.