Galactosemia.

Galactosemia is a rare genetic disorder that affects the body's ability to metabolize galactose, a sugar found in milk and dairy products. Galactosemia is caused by a deficiency of one of the enzymes involved in the breakdown of galactose. There are three main types of galactosemia, each associated with a deficiency of a specific enzyme:

  1. Classic Galactosemia (Type I):

    • Enzyme Deficiency: Galactose-1-phosphate uridyltransferase (GALT).
    • Symptoms: Symptoms may appear shortly after birth and can include feeding difficulties, vomiting, diarrhea, failure to thrive, jaundice, liver damage, and cataracts.
    • Treatment: The primary treatment is a strict galactose-free diet, which involves avoiding all sources of galactose, including breast milk, regular formula, and foods containing milk or lactose.

  2. Galactokinase Deficiency (Type II):

    • Enzyme Deficiency: Galactokinase (GALK).
    • Symptoms: This form of galactosemia is generally less severe. The main symptom is the accumulation of galactitol, a substance formed when galactose cannot be converted to glucose. This can lead to cataracts in the eyes.
    • Treatment: A galactose-restricted diet is not as crucial as in classic galactosemia, but cataracts may require surgical intervention.

  3. UDP-Galactose-4-Epimerase Deficiency (Type III):

    • Enzyme Deficiency: UDP-galactose-4-epimerase (GALE).
    • Symptoms: Symptoms can be variable but may include developmental delays, liver and kidney problems, and cataracts.
    • Treatment: Like Type II, a galactose-restricted diet may not be as strict as in classic galactosemia.

Diagnosis and Management:

  • Newborn screening can detect classic galactosemia shortly after birth.
  • Diagnosis involves blood tests to measure enzyme activity and genetic testing to confirm the specific type of galactosemia.
  • The primary treatment for classic galactosemia is a strict, lifelong galactose-free diet. This requires avoiding all sources of galactose, including breast milk, regular formula, and galactose-containing foods.
  • Individuals with galactokinase deficiency or UDP-galactose-4-epimerase deficiency may not require as strict a dietary restriction as those with classic galactosemia.

Complications of Untreated Galactosemia:

  • If left untreated, galactosemia can lead to serious complications, including intellectual disability, liver damage, kidney failure, and an increased risk of infections.

Prognosis:

  • With early diagnosis and strict adherence to a galactose-free diet, individuals with galactosemia can lead relatively normal lives. However, ongoing medical supervision and dietary management are crucial to prevent complications.






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