Galactose 1-phosphate level in children with various types of hexosephosphate uridylyltransferase deficiency
Grodzka, Z.; Zbieg-Sendecka, E.; Mańkowski, T.
Pediatria Polska 60(9): 631-637
1985
ISSN/ISBN: 0031-3939 PMID: 3008074 Document Number: 244379
The purpose of the study was tracing of the values of galactose-1-phosphate during treatment of patients with galactosaemia, and in double heterozygotes for galactoseaemia and the Duarte variant. The observations were conducted for 2 to 10 years in 11 cases of classic form of galactosaemia and in 34 children with deficiency of hexose-1-phosphate uridylyltransferase. The results showed a relationship between the concentration of galactose-1-phosphate in the erythrocytes and the intensity of clinical changes during the treatment.