Galactosemia - A guide to symptoms and dietary management

For parents of newborns, understanding rare conditions like galactosemia is crucial. Early detection through newborn screening can prevent life-threatening complications, making this knowledge absolutely essential for your child's health and future.

What are the main causes of Galactosemia?

• Galactosemia is an inherited genetic disorder, meaning it is passed from parents to their children through mutated genes affecting enzyme production.
• The most severe form, classic galactosemia, is caused by a profound deficiency of the enzyme galactose-1-phosphate uridylyltransferase, also known as GALT.
• Without the necessary enzyme, the sugar galactose builds up in the blood to toxic levels, which can damage the liver, brain, and eyes.

Key symptoms of Galactosemia to watch for

• Key galactosemia symptoms in infants include poor feeding, lethargy, vomiting, and jaundice, which is the yellowing of the skin and eyes.
• The toxic buildup of galactose can quickly lead to an enlarged liver and severe liver damage if the condition is not diagnosed and treated promptly.
• Cataracts, or a clouding of the eye's lens, can develop within the first few days or weeks of life in untreated infants with the disorder.

>>> Learn more at: Graves' disease - The most common cause of hyperthyroidism

How can you prevent Galactosemia effectively?

• Since it is a genetic condition, prevention is not possible, but prospective parents with a family history can seek genetic counseling for guidance.
• The most effective tool for preventing complications is mandatory newborn screening, which can detect the disorder before severe symptoms begin to appear.
• Once diagnosed, severe health problems are prevented by immediately starting the infant on a strict galactose-free diet, avoiding all milk products.

>>> Add more knowledge: Hashimoto's thyroiditis - The autoimmune cause of hypothyroidism

The top Galactosemia images everyone is searching for

Early diagnosis and strict dietary restrictions are the cornerstones of managing galactosemia. If you have concerns, speak with a pediatrician or genetic counselor to get accurate information and ensure the best possible outcome for your child.

>>> Read to understand more: Hemochromatosis - The risks of iron overload in your body