- What It Is
- Risk Factors
- Living With
- User Questions
Symptoms of Galactosemia
An infant with classic galactosemia usually appears normal at birth. If galactosemia is not detected at birth with testing, symptoms usually occur within the first few days or weeks of life after the baby drinks breastmilk or a lactose-containing formula.
Early symptoms may include:
- Jaundice (yellowing) of the skin and whites of the eyes
- Poor weight gain
- Low blood sugar (hypoglycemia)
- Feeding difficulties
If left untreated, later signs and symptoms may include:
- Opaque lenses of the eyes ( Cataract )
- Enlarged liver, enlarged spleen
- Mental retardation
- Sepsis caused by a specific bacteria (
- Cirrhosis liver failure
- Kidney problems
- Swelling of the extremities or stomach
If diet restrictions are started immediately, it may be possible to prevent acute toxicity. However, long-term complications may still occur. These may include:
- Poor growth
- Learning disabilities
- Speech and language problems
- Fine and gross motor skill delays
- Ovarian failure (in girls)
- Cataracts (usually regress with dietary treatment, leaving no residual visual impairment)
- Decreased bone mineral density
What It Is
Learn the basics of this condition. Find out what you're dealing with.
What causes Galactosemia? Learn what the medical community has uncovered.
Are you at risk of getting Galactosemia? Inside you'll find known risk factors for the condition.
How will your doctor diagnose you with this condition? Learn about the tests, process, and more.
What are the Galactosemia symptoms? Are you showing any? Learn more today.
Can this condition lead to other health problems? Learn more about the known complications.
Learn more about the specific tests or exams given by your doctor to screen for Galactosemia.
What medications offer relief or help with this condition? Are there side effects? Risks? Learn more.
How can you prevent Galactosemia? Read what the medical community suggests for prevention methods.
Can this condition be treated? What Galactosemia treatment options are available?
Learn more about the day to day care of this condition. Changes to your activity, diet, exercise, and more.
Find a Doctor
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