title: Threonine dehydratase deficiency: a probable cause of non-ketotic hyperglycinaemia.
abstract: A patient with classical symptoms of non-ketotic hyperglycinaemia (NKH) is presented. Threonine dehydratase was undetectable in a liver autopsy specimen, which was obtained within 1 h of death and immediately frozen at -70 degrees C. Activities of four marker enzymes were normal. This represents the first documentation of an inborn error of threonine metabolism and a new explanation of NKH.
mesh_terms: D005969:Glutamate Dehydrogenase / Q000378:metabolism; D005998:Glycine / Q000097:blood*; D006801:Humans; D007223:Infant; D007770:L-Lactate Dehydrogenase / Q000378:metabolism; D008099:Liver / Q000201:enzymology; D008297:Male; D009954:Ornithine Carbamoyltransferase / Q000378:metabolism; D013913:Threonine Dehydratase / Q000172:deficiency*
chemical_list: D007770:L-Lactate Dehydrogenase; D005969:Glutamate Dehydrogenase; D009954:Ornithine Carbamoyltransferase; D013913:Threonine Dehydratase; D005998:Glycine