Sweetman L, Nyhan W L, Cravens J, Zomer Y, Plunket D C
J Inherit Metab Dis. 1980;2(3):65-9. doi: 10.1007/BF01801721.
A 2-month-old infant presented with vomiting, lethargy and pancytopaenia. She was found to have propionic acidaemia, and the activity of propionyl-CoA carboxylase in cultured fibroblasts was defective (McKusick 23200). Abnormal amounts of glycine, 3-hydroxypropionate, methylcitrate, tiglyglycine, propionylglycine, 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate, 3-oxovalerate and 3-hydroxyvalerate were found in body fluids. It appears that the organic acidaemia leads to an inhibition in the maturation of cells in the bone marrow.
一名2个月大的婴儿出现呕吐、嗜睡和全血细胞减少。她被诊断患有丙酸血症，培养的成纤维细胞中丙酰辅酶A羧化酶的活性存在缺陷（麦库西克23200）。在体液中发现了异常量的甘氨酸、3-羟基丙酸、甲基柠檬酸、惕各酰甘氨酸、丙酰甘氨酸、2-甲基乙酰乙酸、2-甲基-3-羟基丁酸、3-氧代戊酸和3-羟基戊酸。看来这种有机酸血症会导致骨髓中细胞成熟受到抑制。
