Lysinuric protein intolerance
Other Names for this Disease
- Dibasicamino aciduria II
- Hyperdibasic aminoaciduria type 2
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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.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
Last updated: 11/15/2010
- Lysinuric protein intolerance. Genetics Home Reference (GHR). March 2008; http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance. Accessed 11/15/2010.
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- Genetics Home Reference (GHR) contains information on Lysinuric protein intolerance. This website is maintained by the National Library of Medicine.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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