Historical perspective, brief review of bilirubin physiology, and etiologies of hyperbilirubinemia will be followed by a discussion of physiologic effects/clinical symptoms of elevated serum ...

The NDA for govorestat for the galactosemia indication was accepted by the FDA in late February under its Priority Review pathway. Year to date, shares of Applied Therapeutics have skyrocketed 155 ...

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 ...

Rarely, an unusually high blood level of bilirubin can place a newborn at ... are deficient like the thyroid hormone, tyrosinemia, galactosemia, G6PD enzyme deficiency," he says.

Conjugation of bilirubin and delivery to the intestine doesn't necessarily lead to excretion of the substance. Neonatal intestines contain beta-glucuronidase, an enzyme capable of reducing ...