Amino acid transport disorder
Amino Acid Transport Disorder
Amino acid transport disorder (pronunciation: /ˈæmɪnoʊ ˈæsɪd trænsˈpɔːrt dɪsˈɔːrdər/) is a group of rare inherited conditions that affect the body's ability to absorb amino acids from the food we eat.
Etymology
The term "amino acid transport disorder" is derived from the words "amino acid", which are organic compounds that combine to form proteins, and "transport disorder", which refers to a condition that disrupts the normal transport of these compounds in the body.
Types of Amino Acid Transport Disorders
There are several types of amino acid transport disorders, including:
- Cystinuria: A condition characterized by high levels of the amino acid cystine in the urine.
- Hartnup disease: A disorder that affects the body's ability to absorb certain amino acids.
- Lysinuric protein intolerance: A condition that affects the body's ability to digest certain proteins.
Symptoms
Symptoms of amino acid transport disorders can vary greatly depending on the specific disorder and its severity. They may include:
- Growth problems
- Kidney stones
- Skin rashes
- Neurological problems
Diagnosis
Diagnosis of amino acid transport disorders typically involves a combination of clinical examination, medical history, and laboratory tests. These tests may include blood tests, urine tests, and genetic testing.
Treatment
Treatment for amino acid transport disorders typically involves dietary management to control the intake of certain amino acids. In some cases, medications or supplements may be prescribed to help manage symptoms.
See Also
External links
- Medical encyclopedia article on Amino acid transport disorder
- Wikipedia's article - Amino acid transport disorder
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