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
. 1984 Feb 18;65(7):257-60.

Studies on cultured fibroblasts in a case of methylmalonic aciduria

J S Davidson, A Lloyd, A Christianson, E H Harley, G M Berger
  • PMID: 6141644
Case Reports

Studies on cultured fibroblasts in a case of methylmalonic aciduria

J S Davidson et al. S Afr Med J. .

Abstract

A case of methylmalonic aciduria is described. The clinical course was unusually mild, the child surviving to the age of 8 years. Studies on cultured fibroblasts confirmed a defect in propionate metabolism which was non-responsive to hydroxycobalamin in vitro. Polyethylene-glycol-induced cell fusion with a known methylmalonyl co-enzyme apomutase-deficient cell line showed genetic complementation indicating that in this patient the defect was in one of the enzymes required for 5-deoxyadenosyl cobalamin synthesis.

PubMed Disclaimer

Publication types