Beck B, Christensen E, Brandt N J, Pedersen M
J Inherit Metab Dis. 1981;4(4):225-8. doi: 10.1007/BF02263657.
A 2-year-old boy excreted massive amounts of formiminoglutamic acid in urine. The substance was identified as authentic formiminoglutamic acid by two-dimensional thin-layer chromatography, column chromatography and enzymatic determination. After alkaline hydrolysis the substance was converted to glutamic acid. Serum amino acid concentrations were normal. The patient had normal serum and erythrocyte folate levels. The red blood cell picture was normal. The leukocytes showed slight hypersegmentation. From the age of 3 months he exhibited recurrent otitis media and severe pulmonary infections. He had a peculiar narrow-headed look and marked universal hypotonia. The mental development was slightly retarded. Glutamate formiminotransferase deficiency is postulated. The findings lend support to the theory of glutamate formiminotransferase deficiency being a rather benign disorder of metabolism.
一名2岁男孩尿中排出大量亚胺甲基谷氨酸。通过二维薄层色谱法、柱色谱法和酶法测定，该物质被鉴定为纯亚胺甲基谷氨酸。碱性水解后，该物质转化为谷氨酸。血清氨基酸浓度正常。患者血清和红细胞叶酸水平正常。红细胞形态正常。白细胞显示轻度核分叶过多。从3个月大起，他就反复出现中耳炎和严重肺部感染。他有独特的窄头外观和明显的全身肌张力减退。智力发育略有迟缓。推测为谷氨酸亚胺甲基转移酶缺乏症。这些发现支持了谷氨酸亚胺甲基转移酶缺乏症是一种相对良性的代谢紊乱的理论。
