Reports Summarize Nonketotic Hyperglycinemia Study Results from Department of Pediatric Neurology (Teaching Neuroimage: Glutaredoxin-5-associated Variant Nonketotic Hyperglycinemia).

A research report from the Department of Pediatric Neurology in Delhi, India discusses the case of a 5-year-old boy with nonketotic hyperglycinemia. The boy presented with motor regression, spasticity, dystonia, and pseudobulbar palsy. Further investigations revealed elevated plasma lactate levels and neuroimaging showed leukoencephalopathy. A genetic test identified a novel variant in the Glutaredoxin-5 (GLRX5) gene. This research has been peer-reviewed and published in Neurology. [Extracted from the article]