Galactosemia: A metabolic disorder affecting the metabolism of galactose.

What is the Galactosemia ?

 Galactosemia is a rare genetic disorder that affects the body’s ability to metabolize galactose, a sugar found in milk and dairy products. People with galactosemia

cannot properly break down galactose, leading to a buildup of toxic substances in the blood.  

What are the symptom of Galactosemia?

 Symptoms of galactosemia usually appear within the first few days or weeks of life. They may include:

• Vomiting: Frequent vomiting after feeding.
• Lethargy: A lack of energy or interest in activities.
• Poor feeding: Difficulty gaining weight or maintaining adequate nutrition.
• Jaundice: Yellowing of the skin and eyes.
• Liver enlargement: An enlarged liver.
• Intellectual disability: If untreated, galactosemia can lead to intellectual disability.
• Cataracts: Cloudy lenses in the eyes.

Who can suffer from Galactosemia?

 Galactosemia is an inherited disorder, meaning it is passed down from parents to their children. It is caused by a deficiency in the enzyme galactose-1-phosphate uridyl transferase (GALT).

What are the type of Galactosemia ?

 There are three main types of galactosemia:

• Classic galactosemia: The most common type, caused by a complete or partial deficiency of GALT.
• Variant galactosemia: A less severe type, caused by a partial deficiency of GALT.
• Galactokinase deficiency: A rare type caused by a deficiency in the enzyme galactokinase.

Which diagnostic are available for the Galactosemia ?

 ·  Blood tests: To measure the levels of galactose and its metabolites in the blood.

·  Urine tests: To check for the presence of galactose in the urine.

·  Genetic testing: To confirm the diagnosis and identify the specific genetic mutation causing galactosemia.

What are the treatment of the Galactosemia ?

 The primary treatment for galactosemia is a lifelong lactose-free diet. This involves avoiding all dairy products, including milk, cheese, yogurt, and butter. Lactose-free alternatives can be used as substitutes.

In some cases, additional treatments may be necessary, such as:

• Medication: To treat symptoms such as liver problems or cataracts.
• Liver transplant: In severe cases, a liver transplant may be considered.

Which diet should I take ,if any ?

 A lactose-free diet is essential for people with galactosemia. This means avoiding all dairy products. However, with careful planning, a healthy and varied diet can be maintained using lactose-free alternatives.

Which speciality of the doctor will Galactosemia?

 A pediatrician or genetic counselor is typically involved in the diagnosis and management of galactosemia.

In Galactosemia completely curable ?

While there is no cure for galactosemia, with early diagnosis and strict adherence to a lactose-free diet, individuals with galactosemia can lead healthy and normal lives. Early intervention is crucial to prevent long-term complications.