Abstract
Members of a Toronto family of Northern European ancestry were found to have a deficiency of red cell and white cell glucose 6-phosphate dehydrogenase (G6PD) activity. The hemizygous propositus had neonatal hyperbilirubinemia and subsequent episodes of hemolytic jaundice associated with respiratory infections and exposure to paint fumes. Characterization of the enzyme revealed that it was a variant which had not been previously described, and it was named 6GPD Toronto.
Original language | English (US) |
---|---|
Pages (from-to) | 259-265 |
Number of pages | 7 |
Journal | Biochemical Genetics |
Volume | 8 |
Issue number | 3 |
DOIs | |
State | Published - Mar 1973 |
Externally published | Yes |
ASJC Scopus subject areas
- Ecology, Evolution, Behavior and Systematics
- Biochemistry
- Molecular Biology
- Genetics