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

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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