Literature DB >> 21471

Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia.

K Narisawa, T Saito, S Hisa, H Suzuki, K Hayasaka.   

Abstract

An assay method for the methylmalonyl-CoA mutase of 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 found to be of value for the diagnosis of two variants of methylmalonic acidemia (vitamin B12 responsive and unresponsive), and also for the detection of heterozygotes with the vitamin B12 unresponsive type.

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Year:  1977        PMID： 21471     DOI： 10.1620/tjem.123.1

Source DB:  PubMed          Journal:  Tohoku J Exp Med        ISSN： 0040-8727            Impact factor:   1.848


  2 in total

1.  Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression.

Authors:  H F Willard; L E Rosenberg
Journal:  J Clin Invest       Date:  1980-03       Impact factor: 14.808

2.  Dietary therapy in two patients with vitamin B12-unresponsive methylmalonic acidemia.

Authors:  T Satoh; K Narisawa; Y Igarashi; T Saitoh; K Hayasaka; Y Ichinohazama; H Onodera; K Tada; K Oohara
Journal:  Eur J Pediatr       Date:  1981-02       Impact factor: 3.183
  2 in total

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