As you can guess from the name, Lysinuric Protein Intolerance is a type of protein intolerance or resistance of the body to digest some types of amino acids. Due to the resistance, such individuals have very weak muscles and bones. They would also have very small stature, enlarged liver and the spleen and are very much prone to problems like pulmonary alveolar proteinosis.
HOW IS LYSINURIC PROTEIN INTOLERANCE DIAGNOSED?
Diagnosis of LPI would be done by a general physician at an early stage. Blood tests are done post giving protein rich meals to check for serum ferritin and lactate dehydrogenase isoenzymes.
HOW IS LYSINURIC PROTEIN INTOLERANCE TREATED?
Treatment starts only when solids are given to infants because breast milk has very little protein. Inability to keep foods down like beans, meats, lentils, etc. Oral citrulline is given as supplementation here with severe restrictions on protein consumption. Treatment for recurring diseases like renal insufficiency are done as needed.
DID YOU KNOW?
Only around 140 patients of Finnish origin have been reported to have Lysinuric Protein Intolerance