Classic galactosemia type I
is a metabolic disorder. It causes a low level or lack of an enzyme called galactose-1-phosphate uridyltransferase. This enzyme changes galactose to glucose. Galactose is a simple sugar found in milk products. Glucose is the usable form of sugar in the human body.
Since there is not enough of the enzyme, galactose builds up in the blood. This build up can cause severe damage to the liver, kidneys, central nervous system, and other body systems. If undetected, galactosemia is fatal.
Type II is
a less severe form of this disease
due to low levels of
galactose kinase. This type may be managed with a few dietary restrictions. It does not carry the risk of neurologic or liver damage.
Type III is a form with variable severity due to low levels of galactose epimerase. This type can cause cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.
This sheet will focus on classic
Galactosemia is a genetic condition. It is caused by faulty genes that are inherited from both parents. A normal copy of these genes is needed to make the enzyme correctly.
The primary risk factor is having parents who carry the gene for galactosemia.
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 eyesVomitingPoor weight gainFeeding difficultiesIrritabilityConvulsions
If left untreated, later symptoms and complications may include:
Opaque lenses of the eyes known as
cataractsEnlarged liverEnlarged spleenIntellectual disabilitySepsis caused by a specific bacteria
Scarring of the liver—cirrhosisLiver failureKidney problemsSwelling of the extremities or abdomen
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 growthLearning disabilitiesSpeech and language problemsFine and gross motor skill delaysOvarian failureCataracts—usually regress with dietary treatment, leaving no remaining visual impairmentDecreased bone mineral density—usually from lack of dairy products
Most infants in the US are screened for galactosemia at birth. A small sample of blood is taken with a heel prick. It is also possible to diagnose galactosemia during pregnancy with an
amniocentesis. This test is only done if the baby is at high risk for an illness or condition.
Copyright © Nucleus Medical Media, Inc.
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
of the liver or other tissues.
Galactosemia cannot be cured. Steps can be taken to prevent or minimize symptoms and complications.
Infants can be fed with a soy formula. For further guidance a dietitian with a specialty in galactosemia can help you make a dietary plan.
Avoid all products that contain or produce galactose.
This includes milk or milk by-products, such as: FormulaBreast milkMilkCaseinLactose—milk sugarDry milk solidsCurdsWhey
Galactose can also be found in some non-milk products, such as: Fermented soy productsLegumesOrgan meatsTomato sauces
Lactose or galactose may be used as an additive in some food products. Therefore, always read food labels carefully in order to avoid these foods.
Certain medications have galactose or lactose fillers. Check with your pharmacist before using medications.
Avoid supplements unless prescribed by your doctor. Fillers and inactive ingredients, like galactose are not required to be listed in supplements. If you do take a supplement, ask your pharmacist if there is galactose or lactose in the product.
There is no known way to prevent galactosemia. You may consider genetic counseling if you have galactosemia or have a family history of the disorder. The counselor can help you determine the risk of passing the condition to your children.
Berry GT. Classic cglactosemia and clinical variant galactosemia.GeneReviwews website. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1518. Updated April 3, 2014. Accessed August 6, 2015.
Galactosemia. Genetics Home Reference website. Available at:
http://ghr.nlm.nih.gov/condition/galactosemia. Updated August 2015. Accessed August 6, 2015.
Initial Newborn Assessment.. EBSCO DynaMed website. Available at:
http://www.ebscohost.com/dynamed. Updated April 16, 2015. Accessed August 6, 2015.
The galactosemias. Galactosemia Foundation website. Available at:
http://www.galactosemia.org/understanding-galactosemia. Accessed August 6, 2015.
Last reviewed August 2015 by Michael Woods, MD
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 © EBSCO Publishing. All rights reserved.