Article ID Journal Published Year Pages File Type
4248325 Radiology Case Reports 2009 5 Pages PDF
Abstract
Nonketotic 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.
Related Topics
Health Sciences Medicine and Dentistry Radiology and Imaging
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