Amino acid transport disorder

Amino Acid Transport Disorders are a group of rare metabolic disorders that interfere with the body's ability to transport amino acids from the digestive tract to the cells where they are needed. These disorders can lead to a variety of health problems, including growth retardation, mental retardation, and organ damage.

Overview[edit | edit source]

Amino acids are the building blocks of proteins, and are essential for a variety of bodily functions. They are absorbed from the food we eat and transported to cells throughout the body, where they are used to build new proteins, repair tissues, and perform other vital tasks. In individuals with an amino acid transport disorder, this process is disrupted, leading to a variety of health problems.

Types of Amino Acid Transport Disorders[edit | edit source]

There are several types of amino acid transport disorders, each affecting the transport of different amino acids. These include:

Cystinuria: This disorder affects the transport of the amino acid cystine, leading to the formation of kidney stones.
Hartnup disease: This disorder affects the transport of several amino acids, leading to skin and neurological problems.
Lysinuric protein intolerance: This disorder affects the transport of certain amino acids, leading to growth retardation and other problems.

Symptoms[edit | edit source]

The symptoms of amino acid transport disorders vary depending on the specific disorder and the amino acids affected. However, common symptoms can include:

Diagnosis[edit | edit source]

Diagnosis of amino acid transport disorders typically involves a combination of genetic testing, biochemical testing, and clinical evaluation.

Treatment[edit | edit source]

Treatment for amino acid transport disorders typically involves dietary management to limit the intake of the affected amino acids, and medication to manage symptoms. In some cases, gene therapy may be a potential treatment option.