A simple, rapid method for prenatal detection of defects in propionate metabolism.

Full Abstract

Incorporation of radiolabel from propionate-1(-14)C into protein (TCA insoluble material) in fibroblasts or amniotic fluid cells, provides a rapid, simple means of detecting fetuses with inborn errors of propionate metabolism using small numbers of cells. Controls were easily differentiated from mutant lines over differing media pH conditions. This method was successfully used to diagnose correctly a normal fetus at risk for methylmalonic acidemia. This method can be used as an adjunct in diagnosis, but cannot replace direct enzyme analysis.

Author information

Author/s: Morrow, G (G); Revsin, B (B); Mathews, C (C); Giles, H (H);

Journal and publication information

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal: Clinical genetics (Clin Genet), published in DENMARK. (Language: eng)

Reference: 1976-Oct; vol 10 (issue 4) : pp 218-21

Dates: Created 1976/12/30; Completed 1976/12/30; Revised 2009/02/12;

PMID: 10112, status: MEDLINE (last retrieval date: 2/18/2009, IMS Date: )

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