Junior (College 3rd year) ・Healthcare&Medicine ・MLA ・3 Sources

Galactosemia is a form of varying genetic disorders which result from the compromised ability of an individual’s body to metabolize galactose sugar. Hence, the term galactosemia is just a reference to point the existence of too much galactose in the blood system.


The initial symptoms of the condition in babies can develop within a few days after their birth after they have consumed lactose found in either breast milk or baby formula. Some of the common signs include: refusal to eat by the baby, vomiting or spitting up after breast feeding, yellowing of skin and cataracts (Ward & Shelton, 2015). However, the symptoms might also extend into later stages of life even if a child is treated for the disease at an early age. Learning disabilities is a frequent symptom which includes a delay in language acquisition, speech defects, as well as, difficulty in fine and gross motor skills.
Neurological impairments such as involuntary muscle contractions, inability to coordinate voluntary movements, and problems with gait and balance present some of the major symptoms of galactosemia at a later development stage of an individual’s life.
Ovarian failure is also a common symptom or sign of the disease in females. Most females with severe galactosemia develop premature ovarian insufficiency (POI), which is a condition where the ovaries stop releasing eggs earlier than normal. The galactose and its byproduct are believed to be toxic to ovaries and most females end up being unable to have children due to the premature loss of ovarian function thus resembling early menopause.

Different Types of Galactosemia and Symptoms

Galactosemia is classified under three different types which distinguished through different symptoms depending on the type of condition. Classic galactosemia shows signs immediately after a baby is given milk for the first time which might result in diarrhea, vomiting, lethargy, enlarged liver, and jaundice among other symptoms (Fernandes & Van den Berghe, 2013). Galactosemia type 2, on the other hand, is less harmful than the classic one and most infants born with this condition develop cataracts at an early age unless given a galactose free diet. The difference that separates this type with the other is that babies born with it do not necessarily suffer from neurological disturbances and liver damage.
Type 3 galactosemia has two different forms, one being a severe form which is exceedingly rare and the other being benign. The latter form has no symptom and requires no special diet while the former has symptoms similar to that of type 1 but with increased neurological impairments such as seizures.


Screening tests of classic galactosemia are quick and straightforward. The initial test includes screening the blood of an infant for high levels of galactose and galactose-1-phosphate. Once this has been done and found that either of these compounds has been elevated further tests are conducted to find out the enzymes present or missing. The main enzymes include (GALT, GALK, GALE). DNA testing is also required to confirm the diagnosis.
Strong suspicion that a baby has the condition may result in removing galactose right away from an infant’s diet thus rendering the initial screening for galactose or galactose-1-phosphate meaningless. Subsequently, in the absence of galactose in the diet, the test will be negative whether the baby has the condition or not. Subsequently, enzyme tests are conducted to find out if the suspected baby is indeed galactosemic.


Type 1 and 2 of Galactosemia is treated by removing galactose from the diet. This means all milk products and food containing milk products ought to be totally eliminated (Bosch, 2010). For infants, soy based and casein hydrolysate-based formulas are recommended.


Bosch, A. (2010). Classic galactosemia: dietary dilemmas. Journal Of Inherited Metabolic Disease, 34(2), 257-260.
Fernandes, J., & Van den Berghe, G. (2013). Inborn Metabolic Diseases (3rd ed.). Berlin, Heidelberg: Springer Berlin Heidelberg.
Ward, S., & Shelton, H. (2015). Maternal-Child Nursing Care with the Women's Health Companion. Philadelphia: F.A. Davis Company.

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