Nonketotic Hyperglycinemia

摘要: Glycine concentrations were measured in plasma and cerebrospinal fluid of five patients different types hyperglycinemia to determine why severe neurologic deterioration is confined the so-called nonketotic form hyperglycinemia. content glycine-cleavage enzyme activity also determined brain obtained autopsy from three these patients. Spinal-fluid glycine 15 30 times above normal with hyperglycinemia, but those hyperglycinemias undetermined type who had comparable elevations glycine. was two four several regions, cleavage absent dying By contrast, present an infant died unknown cause. These results suggest that elevated levels may be harmless blood, lethal brain.