What Are The Most Effective Treatments For Galactosemia?

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Galactose is known to be a simple sugar that provides a massive amount of energy from even a small quantity. As a matter of fact, in order for it to be harnessed by the body for energy, it must be converted into glucose by the liver. In addition, did you know that there’s a rare condition associated with Galactose called Galactosemia?

Yes, you read it right! If you are curious about it, try to read the preceding passages in order for you to know the possible treatments for galactosemia as well as its causes, symptoms and risk factors.

Galactosemia

Galactosemia is an unusual genetic or inherited metabolic irregularity that affects an individual’s capability to metabolize galactose (a simple sugar usually found in milk, including mother’s milk and other foods). This kind of condition is usually experienced by infants thus, treatment and diagnosis within the first week of life are essential to avoid mental retardation and other fatal consequences.

There are four types of Galactosemia this includes:

  • Type 1 (Classic Galactosemia)
  • Galakinase deficiency or Type 2
  • Type 3 (epimerase deficiency) and,
  • Duarte variant galactosemia

The most severe form named as the classic galactosemia is mainly due to  an insufficiency of the enzyme named as galactose-1-phospate uridyltransferase (GALT). Some say, that people with classic galactosemia have less than 5% of the usual activity in this enzyme. The galactosemia type-2 or galactokinase, is somewhat similar to the classic glactosemia or the type 1. But the difference is that galactokinase does not show any harsh indication in early infancy and its major clinical indicator is the occurence of cataracts.

On the other hand, the third type of galactosemia is popular as epemirase. Type 3 is usually because of the defect in the gene that is a counterpart of an enzyme named as uridyl diphosphogalactose-4-epimerase (GALE). The last form of galactosemia is the Duarte galactosemia which is a much lighter form of the disease. People with Duarte have 25% to 50% of the usual amount of galactose-1-phosphate uridyltransferase. But they do not usually suffer from any symptoms associated with classic galactosemia.

What are the Causes of Galactosemia

The disease Galactosemia is primarily because of an alteration in the genes that code for GALT or the galactose-1-phosphate uridyltransferase enzyme. The disease is hereditary by way of chromosomal recessive manner, which is determined by two sets of genes, one received from the mother and the other one from the father. If an individual receives one gene for the said disease and one normal gene, the person will be the carrier of the disease though it usually does not exhibit symptoms.

If the parents of the child are both carriers, there’s a 50% likelihood that a child will inherit one faulty gene which results in the child to be a transporter too. There’s also a 25% possibility for a child to inherit both defective genes that can mitigate to the development of the condition on their own. And there’s a 25% possibility that a child will not inherit a faulty gene, meaning they neither become a carrier nor develop the condition.

As what stated earlier, galactosemia is caused by the disruptions or mutation of the GALT gene. Thus, the abnormal buildup of galactose-related chemicals in several organs of the body causes the signs and symptoms of galactosemia.

Symptoms of Galactosemia

Symptoms associated with galactosemia usually develop within several days or weeks after birth. The most common symptoms include:

  • Jaundice (yellowing of the skin and other parts of the body)
  • Diarrhea
  • Abnormal bleeding
  • Fatigue or lethargy
  • Swelling and fluid buildup in the abdomen
  • Irritability
  • Higher risk of infection
  • Loss of appetite
  • Liver damage
  • Liver enlargement
  • Vomiting
  • Weakness
  • Weight loss

People diagnosed with galactosemia that is usually infants have problems eating (failure to thrive) and they tend to lose weight.

Treatments for Galactosemia

Galactosemia means having too much glucose in the blood. Thus, one of the common treatments for galactosemia is the avoidance of foods that contain lactose and galactose. This means that milk and other foods containing lactose or galactose are not consumable.

Treatments for galactosemia do not literally replace the needed enzyme. Avoidance of foods containing galactose only prevents or reduces the risk of some complications and it may not stop all of them. There are some cases wherein children who are having low-galactose diet still develop problems. Such as learning disabilities, speech delays, and reproductive issues.

Complications rendered by galactosemia like speech problems and delays can benefit from speech therapy and those who have learning disabilities may benefit from individual education plans and intervention. In addition, galactosemia can increase the risk of infections thus, antibiotics and other medications are necessary for the treatment. It also affects puberty, so hormone replacement therapy may help as well as genetic counseling. It is also important to consult your doctor regularly in order to address the implications of this disease.

 

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