SCHWARTZ, HOLZEL and KOMROWER have demonstrated high levels of galactose-1-phosphate in tissues of newborns deficient in galactose-1-phosphate uridyl transferase activity. Following their ...

Galactosemia (G) is due to either partial or complete deficiency of the enzyme galactose-1-phosphate uridyl transferase (Ts). In females with G, there is a high incidence of premature ovarian failure.

The level of galactose and galactose 1-phosphate in the blood can also be checked. Genetic testing to look for mutations in the GALT gene may be useful in confirming a diagnosis.

Galactose-1-Phosphate Uridyl Transferase Activity of Whole Blood and Red-Cell Suspension of Controls and Patients with Mongolism. Data on the oxidation of galactose-1-C 14 by leukocytes and ...

This in turn leads to a toxic accumulation of multiple metabolites, including galactose, galactose-1 phosphate (Gal-1P) and galactitol, which can be life-threatening in newborns exposed to ...

Galactosaemia - This is a rare metabolic disorder that affects 1 in 50,000 babies. A deficiency in the enzyme galactose-1-phosphate uridyltransferase leads to raised levels of galactose and ...