Identifying neurometabolic disorders that lead to neonatal encephalopathy is difficult, and access to exome sequencing is a significant advantage in developing countries. We present a case of neonatal encephalopathy characterized by refractory seizures and significant apnea resulting from glutaminase deficiency, along with elevated levels of glutamine and glycine in the cerebrospinal fluid. Although the condition was fatal, it was possible to offer genetic counseling and recommendations for future pregnancies following exome sequencing.
Keywords: epileptic encephalopathy; glutaminase; neonatal seizures; neurometabolic disorder; newborn.
© 2024 The Author(s). Clinical Case Reports published by John Wiley & Sons Ltd.