Literature DB >> 25730

A new variant of methylmalonic acidemia-defective coenzyme-apoenzyme binding in cultured fibroblasts.

G Morrow, B Revsin, R Clark, J Lebowitz, D T Whelan.   

Abstract

Cultured fibroblasts from a patient with methylmalonic acidemia, clinically responsive to vitamin B-12, were studied in vitro. Kinetic analysis revealed abnormal binding of the coenzyme, 5'-deoxyadenosylcobalamin, for its methylmalonyl-CoA carbonylmutase apoenzyme, i.e., KM of 3.8 X 10(-5) M versus control KM of 1.5 X 10(-8) M. These data are interpreted as indicating a structural defect of the apoenzyme at the coenzyme binding site, and represent another variant of this genetic disorder.

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Year:  1978        PMID: 25730     DOI: 10.1016/0009-8981(78)90102-x

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN: 0009-8981            Impact factor:   3.786


  4 in total

Review 1.  Methylmalonic and propionic acidemias: clinical management update.

Authors:  Jamie L Fraser; Charles P Venditti
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856

2.  Methylmalonic acidaemia due to mutase apoenzyme defect: responsive to vitamin B12 in intact fibroblasts but not in vivo.

Authors:  R Baumgartner; O Giardini; A Cantani; G Sabetta; M Castro
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

3.  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

4.  Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.

Authors:  Patrick Forny; D Sean Froese; Terttu Suormala; Wyatt W Yue; Matthias R Baumgartner
Journal:  Hum Mutat       Date:  2014-12       Impact factor: 4.878

  4 in total

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