Galactosemia

Galactosemia is a rare genetic metabolic disorder in which babies are born without the ability to convert the milk sugar, galactose, into glucose (the form of sugar used by the body for energy). Initial signs usually present in the first few weeks of life and include refusal to feed, vomiting, lethargy, jaundice, cataracts, and sepsis (infection). Babies born with galactosemia need to be put on a special lactose-free diet shortly after birth in order to prevent serious multiorgan involvement including death.  In the USA, this disorder is included in the standard Newborn Screening Evaluation done shortly after birth.