LPI
MCID: LYS003
MIFTS: 57
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Lysinuric Protein Intolerance (LPI)
Categories:
Genetic diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Lysinuric Protein Intolerance:
Characteristics:Orphanet epidemiological data:58
lysinuric protein intolerance
Prevalence: 1-9/100000 (Italy),1-9/100000 (Finland); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
highly variable phenotype onset in infancy after weaning from being breast-fed patients look as if they have protein deficiency or malnutrition incidence in finland is 1 in 76,000 births incidence in japan is 1 in 57,000 HPO:31
lysinuric protein intolerance:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
ICD10:
33
Orphanet: 58
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MedlinePlus Genetics :
43
Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein.People with lysinuric protein intolerance have features associated with protein intolerance, including an enlarged liver and spleen (hepatosplenomegaly), short stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture (osteoporosis). A lung disorder called pulmonary alveolar proteinosis may also develop. This disorder is characterized by protein deposits in the lungs, which interfere with lung function and can be life-threatening. An accumulation of amino acids in the kidneys can cause end-stage renal disease (ESRD) in which the kidneys become unable to filter fluids and waste products from the body effectively. A lack of certain amino acids can cause elevated levels of ammonia in the blood. If ammonia levels are too high for too long, they can cause coma and intellectual disability.The signs and symptoms of lysinuric protein intolerance typically appear after infants are weaned and receive greater amounts of protein from solid foods.
MalaCards based summary : Lysinuric Protein Intolerance, also known as lpi, is related to orotic aciduria and hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, and has symptoms including muscle weakness, vomiting and diarrhea. An important gene associated with Lysinuric Protein Intolerance is SLC7A7 (Solute Carrier Family 7 Member 7), and among its related pathways/superpathways are Protein digestion and absorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include lung, breast and spleen, and related phenotypes are failure to thrive and intellectual disability Disease Ontology : 12 An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has material basis in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. GARD : 20 Lysinuric protein intolerance (LPI) is a genetic condition that is caused by the body's inability to digest the amino acids lysine, arginine, and ornithine. These are some of the building blocks of protein. 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. Symptoms usually develop after infants are weaned and begin to eat solid foods. Without treatment, other signs and symptoms associated with protein intolerance may also occur, including short stature, muscle weakness, impaired immune function, and weak brittle bones (osteoporosis). The most serious symptoms involve the lung, kidney and heart. A lung disorder called pulmonary alveolar proteinosis may develop in some individuals, as can end-stage renal disease, coma and intellectual disability. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene and is inherited in an autosomal recessive manner. It is diagnosed based on the symptoms, laboratory and genetic testing. This condition is treated with a modified diet and medications. The long-term outlook depends on the age that LPI is diagnosed and the response to treatment. OMIM® : 57 Lysinuric protein intolerance is caused by defective cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in kidney and intestine. Metabolic derangement is characterized by increased renal excretion of CAA, reduced CAA absorption from intestine, and orotic aciduria (Borsani et al., 1999). See also dibasic amino aciduria I (222690). (222700) (Updated 05-Mar-2021) KEGG : 36 Lysinuric protein intolerance (LPI) is an inherited aminoaciduria caused by defective amino acid transport at the basolateral membrane of epithelial cells in intestine and kidney. Patients affected by this disorder, in general, come to medical attention from early on in life with several significant problems including failure to thrive and intellectual impairment. LPI is caused by mutations in the SLC7A7 gene, which encodes the y+LAT-1 protein, the catalytic light chain subunit of a complex belonging to the heterodimeric amino acid transporter family. UniProtKB/Swiss-Prot : 73 Lysinuric protein intolerance: A metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine. Wikipedia : 74 Lysinuric protein intolerance (LPI) is an autosomal recessive metabolic disorder affecting amino acid... more...
GeneReviews:
NBK1361
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Human phenotypes related to Lysinuric Protein Intolerance:58 31 (show top 50) (show all 91)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:222700 (Updated 05-Mar-2021)UMLS symptoms related to Lysinuric Protein Intolerance:muscle weakness, vomiting, diarrhea, nausea, thin, sparse hair |
Cochrane evidence based reviews: lysinuric protein intolerance |
MalaCards organs/tissues related to Lysinuric Protein Intolerance:40
Lung,
Breast,
Spleen,
Bone,
Bone Marrow,
Heart,
Kidney
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Articles related to Lysinuric Protein Intolerance:(show top 50) (show all 252)
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ClinVar genetic disease variations for Lysinuric Protein Intolerance:6 (show top 50) (show all 201)
UniProtKB/Swiss-Prot genetic disease variations for Lysinuric Protein Intolerance:73 (show all 18)
Copy number variations for Lysinuric Protein Intolerance from CNVD:7
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Search
GEO
for disease gene expression data for Lysinuric Protein Intolerance.
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Pathways related to Lysinuric Protein Intolerance according to KEGG:36
Pathways related to Lysinuric Protein Intolerance according to GeneCards Suite gene sharing:(show all 11)
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Cellular components related to Lysinuric Protein Intolerance according to GeneCards Suite gene sharing:
Biological processes related to Lysinuric Protein Intolerance according to GeneCards Suite gene sharing:(show all 24)
Molecular functions related to Lysinuric Protein Intolerance according to GeneCards Suite gene sharing:
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