2022年8月25日 · Galactosemia is an inherited metabolic disorder that makes your body unable to process a sugar called galactose. Galactosemia can be a problem for newborns because galactose is present in both breast milk and most baby formulas.

Galactosemia II (GALAC2), or galactokinase deficiency, is an autosomal recessive disorder that causes cataract formation in children not maintained on a lactose-free diet. Cataract formation is the result of osmotic phenomena caused by the accumulation of galactitol in …

presence of galactose in the urine owing to deficiency of enzymes that normally would convert it to glucose. Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, …

Galactosemia (British galactosaemia, from Greek γαλακτόζη + αίμα, meaning galactose + blood, accumulation of galactose in blood) is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly.

Classic galactosemia occurs when an enzyme called galactose-1-phosphate uridyltransferase (GALT) is missing or not functional. This liver enzyme is responsible for breaking down galactose (a sugar byproduct of lactose found in breast milk, cow’s milk, and other dairy foods) into glucose.

Definition: Galactosemia II (GALAC2), or galactokinase deficiency, is an autosomal recessive disorder that causes cataract formation in children not maintained on a lactose-free diet. Cataract formation is the result of osmotic phenomena caused by the accumulation of galactitol in the lens (Asada et al., 1999).

The meaning of GALACTOSURIA is the presence of galactose in the urine.

Galactosemia is a disorder of carbohydrate metabolism, transmitted autosomal recessively, that affects newborns who are born asymptomatic, apparently well and healthy but who develop severe morbidity and sometimes even mortality after being breastfed or fed infant formula containing galactose.

2023年9月4日 · It’s a rare metabolic condition that prevents them from processing galactose (one of the sugars in breast milk and formula) and turning it into energy. The disorder can cause many problems for...

Disclaimer: This generalized information is a limited summary of diagnosis, treatment, and/or medication information. It is not meant to be comprehensive and should be used as a tool to help the user understand and/or assess potential diagnostic and treatment options.