Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1978 Apr 3;85(1):67-72.
doi: 10.1016/0009-8981(78)90102-x.

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

G Morrow 3rd, B Revsin, R Clark, J Lebowitz, D T Whelan
Case Reports

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

G Morrow 3rd et al. Clin Chim Acta. .

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.

PubMed Disclaimer

Publication types

MeSH terms

LinkOut - more resources