Davidson J S, Lloyd A, Christianson A, Harley E H, Berger G M
S Afr Med J. 1984 Feb 18;65(7):257-60.
A case of methylmalonic aciduria is described. The clinical course was unusually mild, the child surviving to the age of 8 years. Studies on cultured fibroblasts confirmed a defect in propionate metabolism which was non-responsive to hydroxycobalamin in vitro. Polyethylene-glycol-induced cell fusion with a known methylmalonyl co-enzyme apomutase-deficient cell line showed genetic complementation indicating that in this patient the defect was in one of the enzymes required for 5-deoxyadenosyl cobalamin synthesis.
本文描述了一例甲基丙二酸尿症病例。临床病程异常轻微，患儿存活至8岁。对培养的成纤维细胞的研究证实了丙酸盐代谢存在缺陷，该缺陷在体外对羟钴胺素无反应。聚乙二醇诱导的与已知甲基丙二酰辅酶脱辅基酶缺乏细胞系的细胞融合显示出基因互补，表明在该患者中，缺陷存在于5-脱氧腺苷钴胺素合成所需的一种酶中。
