Amino Acid Metabolic Disorders

Newborn Screening For Amino Acid Metabolic Disorders

Amino Acid Disorders (AAs) are a group of rare inherited conditions and caused by enzymes that do not work properly. 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 nonworking 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. People with these kinds of disorders may need to limit or avoid certain foods because their bodies cannot process them properly. Illness or infection, eating the wrong kinds of foods, or going for a long time without eating can bring about signs and symptoms of each disorder. The symptoms and treatment vary between different amino acid disorders. They can also vary from person to person with the same amino acid disorder. See the fact sheets for each specific amino acid disorder.

Amino acid disorders are inherited in an autosomal recessive manner and affect both males and females. This means they are passed from parent to child through genes. Genes are parts of your body's cells that store instructions for the way your body grows and works.