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

• मुख्य लेखकों: Rapeepat Thewamit (लेखक), Chaiyos Khongkhatithum (लेखक), Lunliya Thampratankul (लेखक), Wuttichart Kamolvisit (लेखक), Arthaporn Khongkrapan (लेखक), Duangrurdee Wattanasirichaigoon (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2023-08-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...