What Are Metabolic Diseases?
Metabolic diseases can be a congenital metabolic disease or innate errors of metabolism. Therefore, it is a genetic condition that has a direct action on certain organs and affects metabolism. Let’s know a little more about this pathology.
What are metabolic diseases?
The word “metabolic disease ” generically encompasses a number of diseases that are characterized by alterations in metabolism. They all originate genetically; that is to say, by an alteration of the genes conditioned before the birth. For that reason, unfortunately they do not manifest themselves clearly until long after the baby is born.
This disease is also known as the metabolism disease. Included within this pathology is a heterogeneous and wide group of diseases that present common alterations in their processes, as well as biological and chemical reactions that are generated in metabolism.
As a result of this malfunction, the body does not use the food it eats in a proper way. Hence, it is unable to produce the required product or metabolite.
In summary, metabolic diseases are generally congenital and are caused by rare genetic disorders. Due to these deficiencies, the body is not able to correctly exercise a metabolic pathway of one or more nutrients due to the modification of the enzyme (s) involved in this process.
How to detect metabolic diseases?
Systematic detection, also called neonatal screening, which is carried out in newborn children, must include, in an indispensable and obligatory way, the search for diseases such as the following:
- Phenylketonuria
- Congenital hypothyroidism
- Congenital adrenal hyperplasia
- Cystic fibrosis of the pancreas
- Hyperphenylalaninemias
- Other aminoacidopathies in blood or urine
- Galactosemia
- Hemoglobinopathies
The most common and effective way to recognize metabolic disease immediately is through the heel test. This must be done to the newborn within a period of no more than 48 hours from birth.
In the process, a little blood is drawn from your heel to find out if you have a congenital disease. In case the tests show a positive result, the doctor will immediately indicate the most appropriate treatment.
The most common metabolic diseases
It can be noted that, within the most common metabolic diseases, are:
- Cystic fibrosis: It is a chronic disease that directly affects the lungs and causes the accumulation of thick mucus both in the lungs and in the digestive tract, among other parts of the body.
- Phenylketonuria: It is also called PKU. It is generated by the lack of an enzyme, known as phenylalanine hydroxylase. This deficiency causes the child who suffers from it not to properly metabolize the amino acid phenylalanine.
- Congenital adrenal hyperplasia: This pathology occurs at the time of the child’s birth. It is caused by a disorder of the functioning of the adrenal glands; This problem leads to some hormones being produced in abundance and others, on the contrary, in very little quantities.
- Congenital hypothyroidism: This disease is usually identified quickly because, because they are so rare, the thyroid hormones do not work properly. Early and timely detection is very important to prevent the child from suffering from possible mental retardation. With the indication of the corresponding treatment, the child can grow and develop normally.
Other aspects to consider
It is important to bear in mind that, to achieve a good diagnosis, it is essential to consider aspects such as the family history and the corresponding physical examination of the child. Within this last element, as indicated above, the heel test (PT) is the most effective.
Likewise, a good diet is essential to face different congenital diseases, among them, metabolic diseases. In this way, the diagnosed baby is helped to feed in such a way that it generates the nutrients that its body requires in order to develop properly.
Ultimately, it is essential that parents, after the stipulated time of the baby’s birth, carry out all the corresponding tests to determine if the child’s body is working properly. Of course, when in doubt, it is necessary to consult directly with a specialist.
