Lysinuric protein intolerance

Common Name(s)

Lysinuric protein intolerance, Dibasic Aminoaciduria 2

Lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting protein. Other features associated with protein intolerance may also occur, including short stature, muscle weakness, impaired immune function, and osteoporosis. A lung disorder called pulmonary alveolar proteinosis may develop in some individuals, as can end-stage renal disease, coma and intellectual disability. Symptoms usually develop after infants are weaned and begin to eat solid foods. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene. It is inherited in an autosomal recessive manner.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lysinuric protein intolerance" for support, advocacy or research.

National Urea Cycle Disorders Foundation

The National Urea Cycle Disorders Foundation is the only organization solely dedicated to saving the lives of children and adults with urea cycle disorders and leading the search for a cure. NUCDF serves as a lifeline to families and medical professionals around the world seeking life saving information. NUCDF focuses on educating UCD patients, families and medical professionals on diagnosis and treatment, stimulating and supporting critical research, as well as providing guidance, information and support to all those affected by urea cycle disorders. The UCD International Patient Registry (www.ucdregistry.org), an IRB-approved research study, empowers UCD patients and caregivers to self-report their own unique experiences with UCD and compare them to others with UCD. Participants in the UCD Registry can help improve the understanding of UCDs, improve care, and accelerate research and development of new treatments.

Last Updated: 18 Mar 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lysinuric protein intolerance" for support, advocacy or research.

National Urea Cycle Disorders Foundation

The National Urea Cycle Disorders Foundation is the only organization solely dedicated to saving the lives of children and adults with urea cycle disorders and leading the search for a cure. NUCDF serves as a lifeline to families and medical professionals around the world seeking life saving information. NUCDF focuses on educating UCD patients, families and medical professionals on diagnosis and treatment, stimulating and supporting critical research, as well as providing guidance, information and support to all those affected by urea cycle disorders. The UCD International Patient Registry (www.ucdregistry.org), an IRB-approved research study, empowers UCD patients and caregivers to self-report their own unique experiences with UCD and compare them to others with UCD. Participants in the UCD Registry can help improve the understanding of UCDs, improve care, and accelerate research and development of new treatments.

http://www.nucdf.org

Last Updated: 18 Mar 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lysinuric protein intolerance" returned 27 free, full-text research articles on human participants. First 3 results:

The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.
 

Author(s): Jung Min Ko, Choong Ho Shin, Sei Won Yang, Moon Woo Seong, Sung Sup Park, Junghan Song

Journal: J. Korean Med. Sci.. 2012 Aug;27(8):961-4.

 

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported ...

Last Updated: 9 Aug 2012

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In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages.
 

Author(s): Amelia Barilli, Bianca Maria Rotoli, Rossana Visigalli, Ovidio Bussolati, Gian C Gazzola, Zamir Kadija, Giuseppe Rodi, Francesca Mariani, Maria Lorena Ruzza, Maurizio Luisetti, Valeria Dall'Asta

Journal:

 

In the recessive aminoaciduria Lysinuric Protein Intolerance (LPI), mutations of SLC7A7/y+LAT1 impair system y+L transport activity for cationic amino acids. A severe complication of LPI is a form of Pulmonary Alveolar Proteinosis (PAP), in which alveolar spaces are filled with lipoproteinaceous ...

Last Updated: 14 Dec 2010

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SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance.
 

Author(s): David N Douda, Nicole Farmakovski, Sharon Dell, Hartmut Grasemann, Nades Palaniyar

Journal:

 

Pulmonary alveolar proteinosis (PAP) is a syndrome with multiple etiologies and is often deadly in lysinuric protein intolerance (LPI). At present, PAP is treated by whole lung lavage or with granulocyte/monocyte colony stimulating factor (GM-CSF); however, the effectiveness of GM-CSF ...

Last Updated: 18 Jan 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lysinuric protein intolerance" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.