Galactosaemia: Definition, Causes, Symptoms, and Treatment

Galactosaemia is a rare genetic disorder characterized by an inability to metabolize galactose, a sugar found in milk and other dairy products. This can lead to a variety of health problems, including liver and brain damage. In this article, we will discuss the definition, causes, symptoms, and treatment options for galactosaemia.

Definition

Galactosaemia is a rare genetic disorder characterized by an inability to metabolize galactose, a sugar found in milk and other dairy products. This is due to a deficiency in one of the enzymes needed for the metabolism of galactose, called galactose-1-phosphate uridyltransferase (GALT). This leads to the accumulation of galactose and its toxic byproducts in the body, resulting in a variety of health problems.

Causes

Galactosaemia is caused by a genetic mutation in the GALT gene, which provides instructions for making the enzyme needed to metabolize galactose. The specific type of mutation can vary, but it leads to a deficiency in the enzyme, causing an inability to break down galactose. This is an inherited disorder and is inherited in an autosomal recessive pattern.

Symptoms

The symptoms of galactosaemia can vary depending on the type and severity of the condition. Some common symptoms include:

  • Feeding problems: Infants with galactosaemia may have difficulty feeding and may vomit after consuming milk or milk-based formula.
  • Jaundice: Galactosaemia can cause jaundice, a yellowing of the skin and whites of the eyes.
  • Liver problems: Galactosaemia can cause liver problems, including an enlarged liver and cirrhosis.
  • Brain damage: Galactosaemia can cause brain damage, leading to developmental delays and intellectual disability.
  • Cataracts: Galactosaemia can cause cataracts, which are cloudy areas in the lens of the eye that can cause decreased vision.
  • Delays in speech and language development
  • Delays in motor development
  • Delays in cognitive development

Treatment

The treatment of galactosaemia involves a strict galactose-free diet, which eliminates all sources of galactose from the diet. This includes milk, milk-based formula, and other dairy products. An alternative source of nutrition, such as soy-based formula, is typically provided to ensure that the infant receives the necessary nutrients for growth and development.

In addition, supplements of certain vitamins, such as vitamin D and vitamin K, are often recommended to prevent deficiencies.

Prevention

Galactosaemia is an inherited disorder and is inherited in an autosomal recessive pattern. Genetic counseling is important

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