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非酮症性高甘氨酸血症(nonketotichyperglyclnemia,NKH)是一种致死性氨基酸代谢障碍疾病。此病的特点是患儿出生后的最初几天内出现迅速的进行性的神经症状。首先出现的症状是肌张力减退和嗜睡,接着出现肌阵挛性搐搦,对疼痛刺激缺乏反应。严重的进行性的呼吸抑制看来是患儿出生后最初数周内死亡的主要原因。患儿父母的空腹血浆中均出现甘氨酸浓度增高,尿中甘氨酸排出增加,这可提示双亲为NKH的杂合子,存在轻度的代谢性缺陷。
Nonketotic hyperglycinemia (NKH) is a fatal disorder of amino acid metabolism. The disease is characterized by rapid, progressive neurological symptoms in the first few days after birth. The first symptoms are hypotonia and drowsiness, followed by myoclonic jerks that lack response to painful stimuli. Severe progressive respiratory depression appears to be the leading cause of death in the first few weeks after birth. Glycyrrhizin concentrations in the fasting plasma of both parents were increased, and glycine excretion in the urine was increased, suggesting that parents with NKH heterozygotes had mild metabolic defects.