Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis

DA Applegarth, JR Toone - Molecular genetics and metabolism, 2001 - Elsevier
Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder of glycine
metabolism caused by a defect in the glycine cleavage enzyme complex (GCS). GCS is a
complex of four proteins encoded on four different chromosomes. In classical neonatal NKH,
levels of cerebrospinal fluid (CSF) glycine and CSF/plasma glycine ratio are very high but
the CSF results, in particular, may be more difficult to interpret in later-onset, milder, or
otherwise atypical NKH. Enzymatic confirmation of NKH requires a liver sample. Delineation …