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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • Galactose-1-phosphate uridyltransferase deficiency
  • Galactosemia, classic
  • GALT deficiency
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Your Question

My newborn baby was diagnosed with galactosemia. Please tell me what I should do.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

My infant was diagnosed with galactosemia, what should I do?

Prompt treatment is needed to prevent serious health problems and intellectual disabilities. Babies with galactosemia who do not start treatment shortly after birth may have permanent effects.[1] Infants diagnosed with galactosemia should be immediately put onto a soy formula. Babies with galactosemia need a diet with restricted amounts of galactose or lactose. These are common ingredients in breast milk and many infant formulas. These babies should remain on a special diet and receive regular medical care by a specialist, such as a metabolic doctor and a dietician familiar with galactosemia. With proper care and treatment, the majority of babies with galactosemia will thrive and continue to grow into active and healthy children.[2]
Last updated: 5/27/2011

How might galactosemia be treated?

When treatment starts before a baby is 10 days old, there is a much better chance for normal growth, development and intelligence.[1] Affected individuals must avoid all milk, milk-containing products (including dry milk), and other foods that contain galactose for life. It is essential to read product labels and be an informed consumer. Infants can be fed with soy formula, meat-based formula or Nutramigen (a protein hydrolysate formula), or another lactose-free formula. Calcium supplements are also recommended.[3] 

Because the body also makes some galactose, symptoms cannot be completely avoided by removing all lactose and galactose from the diet.  Researchers are working on finding a treatment to lower the amount of galactose made by the body, but there is no effective method to do so at this time.[1]

The Screening, Technology, and Research in Genetics (STAR-G) Project is a US-based organization that provides information on newborn screening. They provide comprehensive information for treatment on galactosemia. To view this information, click here.

Last updated: 5/27/2011

What is the prognosis of galactosemia?

Those who receive an early diagnosis and strictly avoid milk products can live a relatively normal life. However, mild intellectual impairment may develop, even in those who avoid galactose.[4]
Last updated: 5/27/2011