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非酮症高甘氨酸血症(NKH)是常染色体隐性甘氨酸分解系统疾病,导致血浆、脑脊液(CSF)和尿中甘氨酸浓度升高。新生儿患者出现迅速进行性嗜睡、张力减退、顽固性惊厥和窒息,常常于1个月内死亡,存活者有严重的神经系统损伤。该病被认为是由于过度刺激脊髓和脑干中抑制性甘氨酸受体和兴奋性甘氨酸受休,兴奋了脑内N-甲基D-天门冬氨酸盐
Nonketotic hyperglycinemia (NKH) is an autosomal recessive glycolytic disease that causes elevated concentrations of glycine in plasma, cerebrospinal fluid (CSF) and urine. Neonatal patients with rapid progressive lethargy, hypotonia, refractory convulsions and asphyxia, often within 1 month of death, survivors have serious nervous system damage. The disease is thought to be due to excessive stimulation of the inhibitory glycine receptors in the spinal cord and brainstem and excitatory glycine rest, excited brain N-methyl D-aspartate