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A simple, rapid method for prenatal detection of defects in propionate metabolism
Author(s) -
Morrow Grant,
Revsin Betty,
Mathews Catherine,
Giles Harlan
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb00037.x
Subject(s) - propionate , prenatal diagnosis , simple (philosophy) , metabolism , genetics , biology , medicine , pregnancy , endocrinology , biochemistry , fetus , philosophy , epistemology
Incorporation of radiolabel from propionate‐l‐i 4 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.