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Galactose-1-phosphate uridylyltransferase (GALT) deficiency, also known as classic galactosemia, is an autosomal recessive metabolic disorder caused by mutations in the GALT gene. This enzyme deficiency leads to the inability to metabolize galactose properly, resulting in the accumulation of toxic byproducts in the body, particularly in the liver, brain, and kidneys.

Symptoms typically appear shortly after birth, once the infant begins consuming breast milk or formula containing lactose (the sugar found in milk). Symptoms may include:

1. Jaundice (yellowing of the skin and eyes)
2. Poor feeding and failure to thrive
3. Vomiting
4. Diarrhea
5. Lethargy
6. Liver enlargement
7. Developmental delays
8. Cataracts
9. Hypoglycemia (low blood sugar)
10. Sepsis-like illness

If left untreated, galactosemia can lead to severe complications such as liver failure, cognitive impairment, and death.

The primary treatment for galactosemia is a strict galactose-free diet for life. This involves avoiding all sources of galactose, including breast milk, cow's milk, and dairy products. Instead, infants are fed with special formulas that do not contain lactose or galactose.

In addition to dietary management, other aspects of treatment may include:

1. Monitoring of nutrient levels and growth to ensure proper nutrition.
2. Regular medical follow-up to monitor for complications and adjust treatment as needed.
3. Management of any complications that arise, such as cataract removal surgery if necessary.
4. Genetic counseling for affected individuals and their families to understand the inheritance pattern and risks of having future affected children.

Diagnosis of galactosemia typically involves newborn screening, which is done shortly after birth. A blood sample is collected from the newborn's heel and tested for the presence of elevated levels of galactose or its metabolites. Confirmation of the diagnosis usually involves further testing, including measurement of enzyme activity in red blood cells and genetic testing to identify mutations in the GALT gene.