Uridyl transferase deficiency

Galactose 1-phosphate uridyl transferase deficiency (galactosemia)... 

Higher in the blood of a person with a galactose 1-phosphate uridyl transferase deficiency than in the normal person... 

Leshe ND, Yager KL, McNamara PD, Segal S. A mouse model of galactose-1-phosphate uridyl transferase deficiency. Biochem Mol Med 1996 59 7-12. 

In the classical form of galactosemia, there is a deficiency of uridyl-transferase enzyme resulting in galactouria, cataracts, and metabolic... 

Figure 5-29. Conversion of galactose to intermediates of glucose metabolism. Galactose 1-phosphate uridyl transferase is deficient in classic galactosemia.

A mother with a deficiency of galactosyl 1-phosphate uridyl transferase... 

Galactosaemia This delect is present in approximately 1 100 000 babies in the UK. A deficiency of galactose 1-phosphate uridyl transferase means that the baby cannot utilize the galactose component of the lactose which is present in milk. Such infants may present with failure to thrive, vomiting and diarrhoea and if untreated may die in the neonatal period or go on to develop liver disease, mental retardation, cataracts and renal tubular damage... 

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