病例报道:1例三胞胎新生儿表现有溶血、非乳酸性代谢性酸中毒,提示有谷胱甘肽合成酶缺乏。这些生物学指征通常与多种畸形比如宫内发育迟缓、足趾发育不良及脑室异常等有关,但是本病例没有这些畸形发生。结论:这种罕见疾病的诊断是由尿中5-oxoproline 的升高确定的,其预后与早期的诊断和及时的治疗有关。这些畸形的发生与谷胱甘肽合成酶缺乏之间的相关性是确定的,然而由于神经解剖学上的差异,用神经放射学探查方法则能够对潜在性脑损伤的定位和严重程度给出明确的信息。 Case reports: 1 case of triplets newborn manifestations of hemolysis, non-lactic acid metabolic acidosis, suggesting a lack of glutathione synthetase. These biological indications are often associated with a variety of deformities such as intrauterine growth retardation, dysplasia of the digits and ventricular abnormalities, but none of these deformities occur. Conclusion: The diagnosis of this rare disease is determined by the elevation of urinary 5-oxoproline, and its prognosis is related to early diagnosis and prompt treatment. The correlation between the occurrence of these deformities and the glutathione synthetase deficiency is definitive, however, due to neuroanatomical differences, the method of neuroradiology can give the location and severity of potential brain damage Clear message