Detection of nonketotic hyperglycinemia in a neonate using proton magnetic resonance spectroscopy

AbstractNonketotic hyperglycinemia (NKH) is a rare metabolic disorder caused by a defect in the glycine cleavage enzyme system, resulting in high glycine concentrations in the brain. We report a neonate in which proton magnetic resonance spectroscopy provided biochemical evidence of elevated brain glycine levels and facilitated early diagnosis of NKH and guided clinical management