Nonketotic hyperglycinemia in a neonate.

Hyperglycinemia represents a group of disorders characterized by elevated concentrations of glycine in body fluids. Two types exist, the ketotic and non ketotic. In the ketotic type, the most striking feature is ketoacidosis, which begins early in life and in which hyperglycinemia is secondarily associated with organic acidemias. Nonketotic hyperglycinemia (NKH) is a disorder of glycine metabolism due to a molecular defect in the glycine cleavage system (GCS)(1,2). Though NKH is a well documented entity, to the best of our knowledge there are no reports of this disorder from India, the result of inadequate diagnostic facilities. We report a case of NKH in a neonate, with a review of its recent therapeutics.