Format

Send to

Choose Destination
Science. 1973 Mar 16;179(4078):1136-9.

Detection of inborn errors of metabolism: galactosemia.

Abstract

Radioautography of cultured, human, galactosemic and nongalactosemic cells shows that, in the presence of 0.05M D-galactono-gamma-lactone, the former incorporate much less galactose in acid-insoluble form than the latter. Presumably the lactone inhibits incorporation of the labeled galactose into pathways which do not require galactose-1-phosphate uridylyltransferase activity. Definite differences between the galactosemic and nongalactosemic condition can be demonstrated with as few as 100 to 1000 cells. This approach may be useful in facilitating prenatal detection of several kinds of inborn errors of metabolism.

PMID:
4689218
DOI:
10.1126/science.179.4078.1136
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for HighWire
Loading ...
Support Center