Lysinuric protein intolerance
Lysinuric protein intolerance (pronunciation: ly-sin-u-ric pro-tein in-tol-er-ance) is a rare inherited metabolic disorder characterized by an inability of the body to properly process certain protein building blocks (amino acids), namely lysine, arginine, and ornithine.
Etymology
The term "Lysinuric protein intolerance" is derived from the words "Lysine", an essential amino acid that the body cannot produce on its own, "uric", referring to the presence of a substance in urine, and "protein intolerance", indicating the body's inability to process certain proteins.
Symptoms
The symptoms of Lysinuric protein intolerance typically appear after an infant is weaned and starts to consume protein from a source other than breast milk. Symptoms may include Failure to thrive, Vomiting, Diarrhea, and Muscle weakness. In severe cases, individuals may experience life-threatening complications such as Pulmonary alveolar proteinosis and Renal disease.
Causes
Lysinuric protein intolerance is caused by mutations in the SLC7A7 or SLC7A9 gene. These genes provide instructions for making proteins that are involved in the transport of certain amino acids, including lysine, arginine, and ornithine, across cell membranes.
Diagnosis
Diagnosis of Lysinuric protein intolerance is often made through a combination of clinical examination, medical history, and laboratory tests. These tests may include Amino acid screening, Genetic testing, and Urine tests.
Treatment
Treatment for Lysinuric protein intolerance typically involves a low-protein diet and supplementation with citrulline or arginine. In some cases, medications to manage symptoms or complications may be necessary.
See also
References
- National Organization for Rare Disorders. (n.d.). Lysinuric Protein Intolerance. Retrieved from https://rarediseases.org/rare-diseases/lysinuric-protein-intolerance/
- Genetics Home Reference. (n.d.). Lysinuric protein intolerance. Retrieved from https://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance
External links
- Medical encyclopedia article on Lysinuric protein intolerance
- Wikipedia's article - Lysinuric protein intolerance
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