Newborn Screening for FAODs
At INFORM Network, we know that having a child is one of the greatest joys in life, but when something isn’t right, it quickly becomes one of the scariest moments in your life. As a parent, you want your child to be happy and healthy. Although there are a plethora of diseases, disorders, and birth defects that are possible, you just hope that it isn’t your child. In the unfortunate event that it is, you want to find out the diagnosis as quickly as possible to be able to discuss treatment options and prevention for worsening symptoms.
What Is Newborn Screening?
Newborn screening is the process of testing newborn children for various diseases, conditions, and disorders in their first few days of life. Newborn screening is required throughout the United States, and early detection can help prevent serious problems in the future as well as give medical professionals the opportunity to create appropriate treatment plans or even save lives.
Some of the problems found with newborn testing include cases of:
- Phenylketonuria (PKU)
- Sickle cell disease
- Cystic fibrosis
- Spinal muscle atrophy (SMA)
- Congenital adrenal hyperplasia (CAH)
- Fatty acid oxidation disorders (FAODs)
Newborn Screening for Fatty Acid Oxidation Disorders
Because most FAODs can be found immediately through testing, FAOD newborn screening could save a child’s life.
With the use of tandem mass spectrometry and urine samples, many fatty oxidation disorders will be found immediately. They are often detected because of their unique blood patterns or protein activity. For example, CACT deficiency is typically detected because of its characteristic blood pattern.
Sometimes newborn testing for FAODs will only signal that there is a suspected metabolic issue in this area, and doctors will order further testing to determine the exact problem. Signs of M/SCHAD deficiency, another FAOD, can be found by newborn testing, but the specific diagnosis is only confirmed by looking at blood sugar and insulin levels in more detail.
Newborn screening for FAODs is one the easiest ways to detect most fatty acid oxidation disorders in a baby, but there are exceptions. ACAD9 deficiency is one example of an FAOD that cannot be detected by newborn screening.
If your child was recently diagnosed with a fatty acid oxidation disorder, there is hope. At the International Network for Fatty Acid Oxidation Research and Management (INFORM), we work with families of children with FAODs to offer education and support. We are also one of the top sources of FAOD research as we look toward new treatments and ways to manage these disorders.