Galactosemia Symptoms

Do you have any symptoms of Galactosemia? Do you even know what they are? Learn more about each symptom of this condition below and what to do if you think you may have Galactosemia.


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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
  • Vomiting
  • Poor weight gain
  • Low blood sugar (hypoglycemia)
  • Feeding difficulties
  • Irritability
  • Lethargy
  • Convulsions

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 ( Escherichia coli )
  • 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


Learn what Galactosemia is
What It Is
Learn the basics of this condition. Find out what you're dealing with.
Galactosemia Causes
What causes Galactosemia? Learn what the medical community has uncovered.
Galactosemia Risk Factors
Risk Factors
Are you at risk of getting Galactosemia? Inside you'll find known risk factors for the condition.
Galactosemia Diagnosis
How will your doctor diagnose you with this condition? Learn about the tests, process, and more.
Galactosemia Symptoms
What are the Galactosemia symptoms? Are you showing any? Learn more today.
Galactosemia Complications
Can this condition lead to other health problems? Learn more about the known complications.

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Screening for Galactosemia
Learn more about the specific tests or exams given by your doctor to screen for Galactosemia.
Galactosemia Medications
What medications offer relief or help with this condition? Are there side effects? Risks? Learn more.
Galactosemia Prevention
How can you prevent Galactosemia? Read what the medical community suggests for prevention methods.
Galactosemia Treatment
Can this condition be treated? What Galactosemia treatment options are available?
Galactosemia Care
Learn more about the day to day care of this condition. Changes to your activity, diet, exercise, and more.
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Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition. Copyright ©2014 EBSCO Publishing All rights reserved. Source: EBSCO