Congenital Galactosemia. A Single Enzymatic Block in Galactose Metabolism

[摘要] Four enzymes are involved in the metabolic conversion of galactose to glucose-l-phosphate. This paper presents final evidence that in congenital galactosemia one of these, phosphogalatose-uridyl transferase, is lacking. This leads to an accumulation galactose-1-phosphate in erythrocytes when galactose is administered to infants suffering from congenital galactosemia. References to recent work which have made this conclusion possible are given. It is not suggested that any immediate therapeutic applications may be made but it is through such elucidation that some of the so called inborn errors of metabolism may ultimately be corrected.

[学科分类] 儿科学