Galactosemia is a rare inherited metabolic disorder that affects the body's ability to process galactose, a sugar found in milk. With early diagnosis and strict dietary management, individuals with galactosemia can lead relatively healthy lives, although some may still experience developmental or long-term complications.

• Cause: Caused by mutations in genes that produce enzymes (e.g., GALT) needed to break down galactose. The most common form is classic galactosemia, caused by a deficiency in the enzyme galactose-1-phosphate uridyltransferase (GALT).

• Features: Symptoms can appear shortly after birth and include vomiting, diarrhea, jaundice, liver enlargement, cataracts, and failure to thrive. If untreated, it can lead to intellectual disability, speech and motor problems, and ovarian failure in females.

• Diagnosis: Diagnosed through newborn screening tests and confirmed with enzyme activity or genetic testing.

• Treatment: The primary treatment is a lifelong strict avoidance of galactose, primarily by excluding milk and dairy products from the diet.