The Disorder Descriptions contain messages about certain conditions identified through newborn screening. Disorders picked up via tandem mass spectrometry have been combined into the following three categories: Amino Acid Disorders, Fatty Acid Oxidation Disorders, and Organic Acid Disorders. For descriptions of specific disorders identified through tandem mass spectrometry, refer to our parent fact sheets.
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For more general newborn screening messages, refer to our Message Library.
Amino Acid Disorders
Fatty Acid Oxidation Disorders
Organic Acid Disorders
Congenital Adrenal Hyperplasia
Sickle Cell Disease and Other Hemoglobinopathies
Protein is made up of smaller building blocks called amino acids. A number of different enzymes are needed to process these amino acids for use by the body. Because of missing or non-working enzymes, people with amino acid disorders cannot process certain amino acids. These amino acids, along with other toxic substances, then build up in the body, and cause problems.
The symptoms and treatment vary between different amino acid disorders. They can also vary from person to person with the same amino acid disorder.
A number of enzymes are needed to break down fats in the body (a process called fatty acid oxidation). Problems with any of these enzymes can cause a fatty acid oxidation disorder. People with FAODs cannot properly break down fat from either the food they eat or from fat stored in their bodies.
The symptoms and treatment vary between different FAODs. They can also vary from person to person with the same FAOD.
Organic acid disorders (OAs) are a group of rare inherited conditions. They are caused by enzymes that do not work properly.
A number of enzymes are needed to process protein from the food we eat for use by the body. Problems with one or more of these enzymes can cause an organic acid disorder.
People with organic acid disorders cannot break down protein properly. This causes harmful substances to build up in their blood and urine. These substances can affect health, growth, and learning.
The symptoms and treatment vary between different organic acid disorders. They can also vary from person to person with the same organic acid disorder.