What Are Metabolic Disorders?
Metabolic disorders may be either congenital metabolic diseases or inborn errors of metabolism. They’re genetic conditions that affect specific organs and the metabolism. Let’s take a closer look at what they are.
What are metabolic disorders?
Metabolic disorders encompass several diseases characterized by metabolism alterations. They’re all genetic, meaning they’re caused by a gene alteration conditioned before birth. For that reason, unfortunately, they don’t manifest until after a baby is born.
Metabolic disorders encompass a heterogeneous range of diseases characterized by alterations of processes and biological and chemical reactions that are generated in metabolism.
As a result of this malfunction, the body doesn’t benefit from ingested food as it should. Therefore, it’s unable to produce the required product or metabolite.
In short, metabolic disorders are generally genetic and are caused by rare genetic disorders. Due to these deficiencies, the body is unable to properly exercise a metabolic pathway of one or more nutrients due to the alteration of enzymes involved in this process.
How to detect metabolic disorders
Screening, also called newborn screening, which is performed on newborn children, must indispensably test for diseases such as the following:
- Phenylketonuria
- Congenital hypothyroidism
- Congenital adrenal hyperplasia
- Cystic fibrosis
- Hyperphenylalaninemia
- Other blood or urine aminoacidopathies
- Galactosemia
- Hemoglobinopathies
The most common and effective way to diagnose metabolic disorders is through the neonatal heel prick test, conducted in the first 48 hours after birth.
In the process, some blood is extracted from the heel to know if the baby has any type of congenital disease. If the results are positive, the doctor will immediately indicate the most appropriate treatment.
“The neonatal heel prick test is a blood test that should be performed on all newborns to rapidly detect certain metabolic disorders.”
The most common metabolic disorders
Here are the most common metabolic disorders:
- Cystic fibrosis. Cystic fibrosis is a chronic disease that directly affects the lungs and causes the accumulation of thick mucus in both the lungs and gastrointestinal tract, among other body parts.
- Phenylketonuria. It’s also known as PKU. It’s caused by a lack of an enzyme known as phenylalanine hydroxylase. This deficiency makes the child who suffers from it be unable to properly metabolize the amino acid phenylalanine.
- Congenital adrenal hyperplasia. This condition occurs when a child is born. It’s caused by an adrenal gland disorder. This problem makes the body overproduce some hormones and underproduce others.
- Congenital hypothyroidism. This condition is usually identified quickly because, as it’s so rare, thyroid hormones don’t work properly. Early detection is important to prevent the child from suffering from possible mental issues. With the right treatment, the child will grow and develop normally.
Other considerations
It’s important to note that, to achieve a good diagnosis, it’s essential to consider aspects such as family history and physical examination of the child. Regarding this last element, as we noted above, the neonatal heel test is the most effective.
Also, good nutrition is essential when it comes to different congenital diseases, including metabolic disorders. Thus, it helps to provide the diagnosed baby with the proper nutrients that his or her body requires in order to develop properly.
Ultimately, it’s essential for the parents to perform all relevant tests to determine if the baby’s body is working properly. Of course, if you have any doubts, you should consult a specialist directly.
All cited sources were thoroughly reviewed by our team to ensure their quality, reliability, currency, and validity. The bibliography of this article was considered reliable and of academic or scientific accuracy.
- Pareja, E., Ribes, C., Gómez-Lechón, M. J., Cortes, M., Vila, J. J., Dalmau, J., … & Mir, J. (2013, December). Terapia celular hepática en el tratamiento de las metabolopatías congénitas en ninos. In Anales de Pediatría (Vol. 79, No. 6, pp. 390-e1). Elsevier Doyma.
- Rojas Bernal, D. F., Góngora Wilson, T., Álvarez Valiente, H. G., Seisdedos Gómez, G., & Macías Quintosa, A. (2013). Diagnóstico por pesquisa neonatal de metabolopatías congénitas en el Centro Provincial de Genética Médica de Santiago de Cuba. Medisan, 17(9), 5035-5041.
- Sánchez-Ventura, J. G. (2003). Cribado neonatal de metabolopatias congénitas. Jano, 65(488), 35. http://enfermerapediatrica.com/wp-content/uploads/2014/01/Articulo-2.pdf