Which are the symptoms of Galactosemia?

Symptoms of Galactosemia

Galactosemia is a rare genetic disorder that affects the body's ability to metabolize galactose, a sugar found in milk and other dairy products. It is caused by a deficiency of certain enzymes needed to break down galactose into glucose, resulting in the accumulation of galactose and its byproducts in the body. This can lead to various symptoms and complications if left untreated.

Early Signs and Symptoms:

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  Jaundice: Newborns with galactosemia often develop jaundice, a yellowing of the skin and eyes, within a few days of birth. This occurs due to the buildup of bilirubin, a yellow pigment produced when red blood cells break down.
  


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  Lethargy and poor feeding: Infants with galactosemia may appear unusually tired, sleepy, or weak. They may also have difficulty feeding, leading to inadequate weight gain.
  


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  Vomiting: Vomiting is a common symptom in infants with galactosemia. It can occur shortly after feeding or even with the introduction of breast milk or formula containing lactose.
  


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  Diarrhea: Infants may experience frequent loose stools or diarrhea, which can contribute to dehydration if not properly managed.
  


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  Failure to thrive: Due to poor feeding and inadequate nutrient absorption, infants with galactosemia may fail to grow and gain weight at the expected rate.
  

Long-Term Complications:

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  Developmental delays: If galactosemia is not diagnosed and treated early, it can lead to developmental delays, including speech and motor skill impairments. Cognitive and intellectual disabilities may also be observed.
  


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  Liver damage: Galactose buildup in the liver can cause hepatomegaly (enlarged liver) and lead to liver damage or cirrhosis if left untreated. This can result in jaundice, abdominal swelling, and impaired liver function.
  


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  Cataracts: Galactosemia can cause the formation of cataracts in the eyes, leading to clouded vision or even blindness if not addressed.
  


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  Increased infection susceptibility: Individuals with galactosemia may be more prone to infections, particularly urinary tract infections (UTIs) and sepsis. This is thought to be related to impaired immune function.
  


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  Neurological complications: In some cases, galactosemia can result in neurological problems such as tremors, poor coordination, and difficulty with balance and gait.
  

Dietary Management:

Galactosemia is typically managed through a strict lactose-free diet. This means avoiding all sources of galactose, including milk, cheese, yogurt, and other dairy products. Instead, individuals with galactosemia can consume lactose-free alternatives or specialized formulas that do not contain galactose. It is crucial to work closely with a healthcare professional or registered dietitian to ensure a nutritionally balanced diet that meets the individual's needs.

Conclusion:

Galactosemia is a genetic disorder that can have significant health implications if not diagnosed and managed promptly. Early recognition of the symptoms, such as jaundice, poor feeding, and vomiting, is crucial for early intervention and treatment. Long-term complications, including developmental delays, liver damage, cataracts, increased infection susceptibility, and neurological issues, can arise if galactosemia is left untreated. With proper dietary management and medical care, individuals with galactosemia can lead healthy and fulfilling lives.