Lysinuric Protein Intolerance (SLC7A7)
Lysinuric protein intolerance is an autosomal recessive condition that prevents the body from processing proteins correctly. It is caused by pathogenic variants in the gene SLC7A7. Symptoms begin in infancy with feeding difficulty, vomiting, diarrhea, muscle weakness, and poor growth. Treatment with a special low-protein diet improves but does not eliminate symptoms. Long-term symptoms can include lung disease, kidney disease, problems with the immune system, and other complications. Life expectancy can be reduced, but is highly variable. While the condition is sometimes fatal in childhood, many individuals survive into adulthood. Lysinuric protein intolerance can affect people of any ethnicity, but it is more common in people who are from Finland or Japan. It is not currently possible to predict how severe the disease will be based on the type of variants inherited.
For information about carrier frequency and residual risk, please see the residual risk table.