DefinitionClassic 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.
CausesGalactosemia 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.
Risk FactorsThe primary risk factor is having parents who carry the gene for galactosemia.
SymptomsAn 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
- Poor weight gain
- Feeding difficulties
- Opaque lenses of the eyes known as cataracts
- Enlarged liver
- Enlarged spleen
- Intellectual disability
- Sepsis caused by a specific bacteria
- Scarring of the liver known as cirrhosis
- Liver failure
- Kidney problems
- Swelling of the extremities or abdomen
- 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—usually from lack of dairy products
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