What is baby metabolic testing. role do enzymes play in disorders?
Baby Metabolic Testing
Baby metabolic testing is a group of tests that are performed on newborns to screen for a variety of metabolic disorders. These disorders are typically rare, but they can have serious consequences if they are not diagnosed and treated early.
The tests are usually done within the first few days of life. A small sample of blood is taken from the baby's heel and sent to a laboratory for analysis. The tests can detect a variety of disorders, including:
Phenylketonuria (PKU): A disorder in which the body is not able to properly break down the amino acid phenylalanine. This can lead to intellectual disability and other problems.
Hypothyroidism: A disorder in which the thyroid gland does not produce enough thyroid hormone. This can lead to developmental delays and other problems.
Cystic fibrosis: A disorder that affects the lungs and other organs.
Sickle cell disease: A disorder in which the red blood cells are sickle-shaped. This can lead to anemia and other problems.
Maple syrup urine disease: A disorder in which the body is not able to properly break down certain amino acids. This can lead to intellectual disability and other problems.
The Role of Enzymes in Disorders
Enzymes are proteins that help speed up chemical reactions in the body. They play a vital role in many different bodily processes, including digestion, metabolism, and energy production.
In some cases, genetic mutations can cause enzymes to be produced in an abnormal form or not at all. This can lead to metabolic disorders. For example, in PKU, the enzyme that breaks down phenylalanine is not produced in a functional form. This leads to a build-up of phenylalanine in the blood, which can cause intellectual disability and other problems.
Treatment for metabolic disorders often involves dietary restrictions and/or medication to help control the levels of certain substances in the blood. Early diagnosis and treatment can help prevent serious complications from these disorders.