Galactosemia is a rare inherited metabolic disorder that affects the body’s ability to process galactose, a sugar found primarily in milk and dairy products. The signs of galactosemia usually appear shortly after birth, especially when an infant begins to consume milk or formula containing lactose, which breaks down into glucose and galactose. Because the body cannot properly convert galactose into glucose for energy, toxic substances build up, leading to a range of symptoms.
The earliest and most common signs of galactosemia in newborns include **poor feeding and refusal to eat milk-based formulas**. Babies may become irritable and show signs of discomfort when fed milk. Vomiting is frequent, often occurring soon after feeding, which can lead to dehydration and weight loss. These symptoms reflect the body’s struggle to handle galactose properly.
Another prominent sign is **jaundice**, a yellowing of the skin and eyes caused by liver dysfunction. The liver becomes enlarged and may be tender due to the toxic effects of accumulated galactose metabolites. This liver involvement can progress to more severe liver damage if untreated.
Infants with galactosemia often exhibit **lethargy and failure to thrive**, meaning they do not gain weight or grow as expected. This is partly due to poor nutrition from feeding difficulties and partly due to the metabolic disturbances caused by the disorder.
In some cases, **cataracts** develop within the first few months of life. These are clouding of the lens of the eye, which can impair vision. Cataracts occur because galactose and its by-products accumulate in the lens, disrupting normal eye development.
Other signs can include **increased susceptibility to infections**, particularly sepsis caused by bacteria like E. coli. This happens because galactosemia can impair the immune system’s function, making infants more vulnerable to serious infections.
Neurological symptoms may also appear, such as **developmental delays, poor muscle tone, and intellectual disabilities** if the condition is not managed early. These arise from the toxic effects of galactose accumulation on the brain and nervous system.
Additional symptoms sometimes observed are **swelling or tenderness in the abdomen** due to liver enlargement, and in severe cases, kidney dysfunction may occur. Some infants may also experience bleeding problems because of liver impairment affecting clotting factors.
There are different forms of galactosemia, ranging from classic severe types to milder variants. In milder forms, symptoms might be less obvious or develop more slowly, sometimes only causing subtle feeding difficulties or mild digestive issues.
In summary, the signs of galactosemia in infants typically include:
– Poor feeding and refusal of milk-based formulas
– Vomiting and irritability
– Jaundice and enlarged liver
– Failure to thrive and lethargy
– Cataracts developing in early infancy
– Increased risk of infections
– Developmental delays and neurological problems in untreated cases
– Possible kidney dysfunction and bleeding issues
Recognizing these signs early is critical because prompt diagnosis and dietary management—primarily eliminating galactose from the diet—can prevent many of the severe complications associated with galactosemia.
