1 The Department of Pediatrics, Kyoto Prefectural University of Medicine, Kawaramachi Hirokoji Kamigyo-ku, Kyoto 602, Japan
Nonketotic hyperglycinemia (NKH) is a rare inherited disease caused by a defect of the glycine cleavage enzyme.1 Especially in the neonatal type, neurological symptoms such as muscular hypotonia, seizures, respiratory distress, and lethargy develop rapidly, and the prognosis is unfavorable.1 Elevation of glycine in the cerebrospinal fluid (CSF) is thought to be responsible for these symptoms. However, management is quite difficult, because it is not well understood how elevation of glycine causes these symptoms. Lowering of the glycine level in CSF with sodium benzoate is not enough to avoid severe psychomotor and mental retardation. The N-methyl-D-aspartate (NMDA) receptor, which is one of the excitatory amino acid receptors, has a glycine binding site.2
Submitted on November 1, 1993