Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis

• Main Author: Thewamit R.
• Other Authors: Mahidol University
• Format: Article
• Published: 2023
• Subjects: Medicine
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/88950

Nonketotic hyperglycinemia (NKH) is in most cases a fatal inborn error of metabolism which usually presents during the neonatal period as encephalopathy and refractory seizures. The reported congenital anomalies associated with NKH included corpus callosal agenesis, club foot, cleft palate, and cong...