Disorder Descriptions

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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Category:
Amino Acid Disorders
Fatty Acid Oxidation Disorders
Organic Acid Disorders
Biotinidase Deficiency
Congenital Adrenal Hyperplasia
Congenital Hypothyroidism
Galactosemia
Sickle Cell Disease and Other Hemoglobinopathies

Amino Acid Disorders
Amino acid disorders (AAs) are a group of rare inherited conditions. They are 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 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.

Fatty Acid Oxidation Disorders
Fatty acid oxidation disorders (FAODs) are a group of rare inherited conditions. They are caused by enzymes that do not work properly.

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

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.

Biotinidase Deficiency
In people with biotinidase deficiency, the body is unable to use a type of vitamin called biotin.

Congenital Adrenal Hyperplasia
The adrenal glands in people with congenital adrenal hyperplasia do not work properly. These people cannot make normal amounts of certain hormones.

Congenital Hypothyroidism
In people with congenital hypothyroidism, the thyroid gland cannot make enough thyroid hormone for normal body and brain growth

Galactosemia
People with galactosemia cannot break down a sugar found in milk.

Sickle Cell Disease and Other Hemoglobinopathies
Sickle cell disease or other hemoglobinopathies affects the red blood cells and may cause anemia