Learn about the signs and symptoms of Galactosemia in newborns & babies, and how rapid newborn screening, diagnosis & intervention can help to prevent life-threatening symptoms.

Classic galactosemia is an inherited (genetic) condition that prevents the body from breaking down a sugar called galactose. Your body gets energy from breaking down galactose in milk …

Galactosemia affects 1 in every 40,000 to 1 in 60,000 newborns around the world. Galactosemia is one of the metabolic diseases that can be identified through Newborn Screening Evaluation. …

Galactosemia is a disorder of carbohydrate metabolism, transmitted autosomal recessively, that affects newborns who are born asymptomatic, apparently well and healthy but who develop …

2017年4月1日 · This review focuses on galactosemia, with an emphasis on classic galactosemia: the pathophysiology, genetics, clinical features both in the neonatal period as well as later in …

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 …

2000年2月4日 · Persons with clinical variant galactosemia may be missed with newborn screening as the hypergalactosemia is not as marked as in classic galactosemia and breath …

Galactosemia is an autosomal recessive inherited metabolic disorder. Abnormal galactose metabolism can be caused by the deficiency of any of the three enzymes of the galactose …

Galactosemia is a carbohydrate metabolic disorder with a hereditary deficient galactose metabolizing enzyme. Neonatal cholestasis is a major and known major manifestation of the …

2023年9月4日 · Galactosemia is a rare genetic condition that prevents babies from processing galactose, an important sugar in breast milk. Though the disease can cause many issues, it’s …