文章基本信息

标题：Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis
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作者：M J Mahoney ; A C Hart ; V D Steen 等
期刊名称：Proceedings of the National Academy of Sciences
印刷版ISSN：0027-8424
电子版ISSN：1091-6490
出版年度：1975
卷号：72
期号：7
页码：2799-2803
DOI：10.1073/pnas.72.7.2799
语种：English
出版社：The National Academy of Sciences of the United States of America
摘要：We measured the synthesis of 5'-deoxyadenosylcobalamin (AdoCbl) in fibroblast extracts from patients with inherited methylmalonicacidemia due to deficient activity of the cobalamin-dependent holoenzyme, methylmalonyl-CoA mutase (EC 5.4.99.2 ). Previous studies with intact fibroblasts from patients whose holoenzyme deficiency was secondary to abnormal cobalamin metabolism had defined two phenotypes, one in which whole cells failed to accumulate AdoCbl and a second in which they failed to accumulate both AdoCbl and the second cobalamin coenzyme, methylcobalamin. With a broken cell assay of AdoCbl synthesis in cell extracts and the cell lines are named cbl A mutants; the other class shows severe deficiency of AdoCbl synthesis and the cell lines are named cbl B mutants. We define cbl C mutants as those in which both AdoCbl and methylcobalamin fail to accumulate in intact cells. The assay for AdoCbl synthesis is thought to measure two enzymatic activities, cob(II)alamin reductase (EC 1.6.99.9 ) and cob(I)alamin adenosyltransferase (EC 2.5.1.17 ). Subcellular fractionation studies place this combined activity in mitochondria.