Pediatric galactosemia

Galactosemia (galactosemia) is a congenital metabolic disorder caused by galactose-1-phosphate uridyl transferase (Gal-1-PUT) deficiency, galactose and its oxidation The reduction products accumulate in the body, and severe symptoms such as hepatomegaly and cataracts appear.

Was this article helpful?

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.