Galactosemia – Causes, Symptoms and Treatments!

Galactosemia – Causes, Symptoms and Treatments we should all know. Furthermore,  galactosemia can be defined as an exacerbated blood concentration of the monosaccharide galactose (aldohexose, C-4 glucose epimera), resulting from a disorder in metabolism generated by deficient enzyme activity or altered liver function.

The human species acquires galactose initially through human and bovine milk and dairy products , through the breakdown (hydrolysis) of lactose (glucose + galactose linked by a β-glycosidic end). Free galactose is also found in vegetables such as bananas , apples , tomatoes , among others.

The digestion of lactose is mediated by lactase (intestinal enzyme), responsible for hydrolyzing the monosaccharides that form it. Subsequent to the breakdown of lactose into glucose and galactose, the process of metabolizing these monosaccharides occurs, encompassing enzymatic catalysis that will ultimately lead to the conversion of galactose into glucose (energy source). The process of galactose metabolism is altered in galactosemic patients, as a result of enzymatic deficiencies at different levels.

Causes of Galactosemia:  The disease is hereditary, passing from parents to children, and this is its main cause.

  • Both men and women can suffer from the disease. White people are more likely to have the disease than people of other races.
  • Due to the difficulty of metabolizing the monosaccharide, galactose accumulates and ends up causing health problems, which can affect the brain , kidneys and liver .

Symptoms of Galactosemia:  It is common for babies born with the condition to show signs in the first days of life, if they consume breast milk or some other food that has lactose in its composition.

These symptoms could be due to a serious blood infection. It is extremely important to seek help immediately, especially if there is a family history of galactosemia . The most noticeable symptoms in these situations are;

  • Irritability;
  • Seizures;
  • Cravings and vomiting;
  • Insufficient weight gain;
  • Baby’s refusal to take a bottle;
  • Lethargy;
  • Jaundice, that is, yellow eyes and skin;

In the face of these signs do not hesitate to seek help. Galactosemia is a worrisome condition that needs to be understood and treated. otherwise it may end

causing damage such as cirrhosis of the liver, mental retardation, severe infections, cataracts and uncontrollable motor functions. So be sure to look for a professional.

Risk Factors for Galactosemia:  The only existing risk factor for galactosemia is hereditary and genetic factors. If you are related to people who have the disease, you are more likely to get it.

The doctor consulted will ask routine questions and investigate the symptoms to determine what the disease is. In addition, some tests may be ordered for accuracy in the diagnosis:

Treatment for Galactosemia:  People with galactosemia need to avoid any and all types of milk , both bovine and breast milk. Even dairy products and powdered milk should be avoided for life. Therefore, it is very important to pay attention to the food label, as sometimes traces of milk are found in the least expected foods.

The lack of these foods can, however, be harmful. It is necessary to find outlets that meet the acquired needs. Babies can, for example, switch to soy milk , meat-based milk or milk that does not contain lactose Calcium supplements should also be included in this diet.

Basically through these measures it is possible to lead a normal life. However, they must be taken for a lifetime and the condition must never be neglected. The prognosis is positive when everything is followed to the letter.

If there are difficulties, a professional can help in the elaboration of an adequate diet. The important thing is not to stop looking for help under any circumstances. Treatment needs to be started as soon as possible, so that the accumulation of the substance does not cause damage to the human body.

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