Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia.
- 1 January 1977
- journal article
- research article
- Published by Tohoku University Medical Press in The Tohoku Journal of Experimental Medicine
- Vol. 123 (1) , 1-8
- https://doi.org/10.1620/tjem.123.1
Abstract
An assay method for the methyl-malonyl-CoA mutase of human leukocytes obtained from 3 ml of blood was established. The enzyme activity which was measured with or without the in vitro addition of 5''-deoxyadenosylcobalamin was of value for the diagnosis of 2 variants of methylmalonic acidemia (vitamin B12 responsive and unresponsive), and also for the detection of heterozygotes with the vitamin B12 unresponsive type.This publication has 4 references indexed in Scilit:
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