People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes up half of lactose, the sugar found in milk.
Galactosemia, a hereditary defect in the metabolism of the sugar galactose, which is a constituent of lactose, the main carbohydrate of milk. Infants with this.
POI in galactosemia. The most common long-term complication reported for girls and women with profound GALT deficiency is POI, with an incidence of >80%.
Galactosemia is an inherited disorder. This means it is passed down through families. If both parents carry an abnormal gene that can cause galactosemia, each of their children has a 25% chance of being affected. It occurs in approximately 1 of every 60,000 births among Caucasians. The rate is different for other groups. There are three forms of the disease: People with galactosemia are unable to fully break down the simple sugar galactose.
GALT is responsible for hereditary galactosemia and is the most common deficiency. This enzyme catalyzes conversion of galactose-1-phosphate and UDP.
Classic galactosemia. Duarte galactosemia. Resources for Galactosemia. PubMed search for review articles on galactosemia in the last 5 years.