Turkish Journal of Medical Sciences
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.
Nonketotic hyperglycinemia, hypotonia.
TAŞTEKİN, AYHAN; ÖRS, RAHMİ; ÖZKAN, BEHZAT; and DENİZ, ORHAN (2002) "A Rare Case of Neonatal Hypotonia: Neonatal Nonketotic Hyperglycinemia," Turkish Journal of Medical Sciences: Vol. 32: No. 1, Article 14. Available at: https://journals.tubitak.gov.tr/medical/vol32/iss1/14