Galactosemia is a rare, inherited genetic disorder caused by
high levels of galactose in the blood. Galactose is a part of the sugar
(lactose) found in dairy products. Galactosemia is caused by a deficiency in
one of the three enzymes needed to break down galactose, so it builds to
A child who has galactosemia appears normal at
birth but develops symptoms after taking formula or breast milk. Symptoms of
Without early diagnosis and treatment, a child with
galactosemia can develop mild to severe effects. The child may stop developing
normally and may have vision problems (cataracts), liver problems, and
intellectual disabilities. One form of the disease causes cataracts without
intellectual disabilities or poor growth.
Galactosemia is treated
with a special diet that does not contain galactose or lactose. A person who has galactosemia must always avoid milk and milk products.
Kathleen Romito, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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