Munson Health
 
Galactosemia

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by Badash M
 

Symptoms

An infant with classic galactosemia usually appears normal at birth. 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:
  • Yellowing of the skin and whites of the eyes
  • Vomiting
  • Poor weight gain
  • Feeding difficulties
  • Irritability
  • Convulsions
If left untreated, later symptoms and complications may include:
If dietary restrictions are started right away, 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
  • Cataracts—usually regress with dietary treatment, leaving no remaining visual impairment
  • Decreased bone mineral density
 

Diagnosis

Amniocentesis
Amniocentesis
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Your doctor may also suspect galactosemia after a urine test. The diagnosis can be confirmed with a blood test, including enzyme levels, or with a biopsy of the liver or other tissues.
 

RESOURCES

American Liver Foundation.
http://www.liverfoundation.org

Parents of Galactosemic Children, Inc.
http://www.galactosemia.org

 

CANADIAN RESOURCES

Save Babies Through Screening Foundation
http://www.savebabies.org

Sick Kids
http://www.sickkids.ca

 

References


Galactosemia. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/galactosemia. Published August 12, 2013. Accessed August 14, 2013.


Inborn errors of metabolism—work in progress. EBSCO DynaMed website. Available at: https://dynamed.ebscohost.com/about/about-us. Updated March 28, 2012. Accessed August 14, 2013.


Understanding galactosemia. Galactosemia Foundation website. Available at: http://galactosemia.org/Understanding%5FGalactosemia.php. Accessed August 14, 2013.

 

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