Lysinuric protein intolerance

What is the cause of lysinuric protein intolerance?

Lysinuric protein intolerance is caused by a genetic change in the SLC7A7 gene.

Last updated on 05-01-20

How is lysinuric protein intolerance diagnosed?

The diagnosis of lysinuric protein intolerance is made when an individual is noted to have the specific symptoms of this condition. It is confirmed by specific laboratory testing and genetic testing of the SLC7A7 gene.

Last updated on 05-01-20

How is lysinuric protein intolerance inherited?

Lysinuric protein intolerance is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene. To have lysinuric protein intolerance, a person must have a mutation in both copies of the SLC7A7 gene in each cell. There is nothing either parent can do, before or during pregnancy, to cause a child to have this.

People with autosomal recessive conditions inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive disorder typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, each child has a:

• 25% (1 in 4) chance to have the disorder
• 50% (1 in 2) chance to be an unaffected carrier like each parent
• 25% (1 in 4) chance to be unaffected and not be a carrier

Last updated on 05-01-20

What is the long-term outlook for people with lysinuric protein intolerance?

The long-term outlook for people with lysinuric protein intolerance may depend on how early the condition is diagnosed and how soon treatment is started.

Last updated on 05-01-20

How many people have lysinuric protein intolerance?

The exact number of people with lysinuric protein intolerance is unknown. It has been reported in about 200 individuals worldwide. One-third of those are of Finnish origin. The prevalence in Finland is thought to be about 1/60,000.

Last updated on 05-01-20

How might lysinuric protein intolerance be treated?

Lysinuric protein intolerance is treated through a protein-restricted diet. In addition, medications are used to help prevent the build-up of nitrogen and ammonia in the blood. Other treatments may be used depending on the specific symptoms that are present.

Last updated on 05-01-20

Name: National Urea Cycle Disorders Foundation 75 South Grand Avenue
Pasadena, CA, 91105, United States
Phone: +1-626-578-0833 Toll Free: 800-38-NUDCF (386-8233) Email: Url:
Lysinuric protein intolerance Genetics Home Reference (GHR). March 2008; Reference Link Mauhin V, Habarou R, Gobin S, Servais A, Brassier A, Grisel C, Roda C et al. Update on Lysinuric Protein Intolerance, a multi-faceted disease retrospective cohort analysis from birth to adulthood Orphanet Jl of Rare Dis. Jan 5, 2017; 12(1). Reference Link Nunes V, Niinikoski H. Lysinuric protein intolerance GeneReviews. Updated Apr 12, 2018; Reference Link Lysinuric protein intolerance; LPI Online Mendelian Inheritance in Man (OMIM). Updated 9/18/2015; Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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