Related Experiment Video
Updated: Jun 7, 2025

Early Pathological and Magnetic Resonance Detection of Cerebral Injury Using a Rat Model of Neonatal Hypoxic Ischemic Encephalopathy
Published on: October 28, 2022
Neonatal Encephalopathy due to Glutaminase Deficiency in a Neonate
Unnati Achanta1, Shrinidhi Krishnan1, Ashok Chandrasekaran2
1Department of Paediatrics SRM Medical College Hospital and Research Centre Chengalpattu India.
Abstract:
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.
Related Concept Videos
Inborn Errors of Metabolism
Antiepileptic Drugs: Glutamate Antagonists
Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:

