Patient's question:
These past few days, my baby has been refusing food, vomiting, having seizures, and experiencing respiratory distress. There has been no weight gain, liver enlargement, jaundice, abdominal pain, hypoglycemia, and proteinuria, which terrified me. I immediately took her to the hospital with my husband for a thorough examination. The doctor said she suffers from a hereditary metabolic disorder, but we don’t understand it. What is galactosemia, a genetic disease?Doctor's answer:
Infants with galactosemia, whose genotype for this enzyme is homozygous recessive, cannot utilize galactose due to the lack of this essential enzyme. As a result, the level of galactose in the blood decreases, leading to symptoms such as nausea, vomiting, hepatomegaly, cataracts, developmental delays, and intellectual disability. If not treated early and comprehensively, these infants may die during infancy. If diagnosed early, feeding them a lactose- and galactose-free diet allows the infants to grow and develop normally. If detected later, liver damage may have already occurred, leading to recurring cataracts and intellectual disability. Even with treatment, recovery may be difficult.