Lysinuric Protein Intolerance (LPI)

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Disease Ontology 12 DOID:0060439 OMIM 56 222700 KEGG 36 H00899 MeSH 43 C562687 D000592 NCIt 49 C121563 SNOMED-CT 67 303852004

ICD10 via Orphanet 33 E72.0 UMLS via Orphanet 72 C0268647 Orphanet 58 ORPHA470 MedGen 41 C0268647 SNOMED-CT via HPO 68 10501004 119250001 123983008 124277009 127388009 129646001 13213009 134291007 13644009 16294009 165397008 165850001 166603001 166643006 166830008 190773008 190785000 197660000 19943007 2109003 214264003 22640007 228156007 234457009 2359002 237836003 24743004 247546006 247578003 248250000 248311001 248325000 2492009 249497008 258211005 26544005 267060006 268029009 271737000 27868004 28689008 29738008 300359004 302215000 312894000 35912001 36440009 36760000 371632003 386806002 398036000 398151007 398152000 409623005 415116008 422400008 422587007 428255004 428875002 432788009 433146000 47563007 47641009 48713002 53602002 5468008 56558005 58588007 59655002 59927004 61070002 62315008 64654004 64779008 64859006 65404009 66187002 70241007 74035001 75183008 75694006 77182004 78164000 78441005 80515008 84828003 91138005 9360008 9551004 more UMLS 71 C0268647

Genetics Home Reference : ²⁵ 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 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome and orotic aciduria, 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 kidney, bone and lung, 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.

NIH Rare Diseases : ⁵² 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 : ⁵⁶ 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)

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

Clinical features from OMIM:

222700

Search Clinical Trials , NIH Clinical Center for Lysinuric Protein Intolerance

Search GEO for disease gene expression data for Lysinuric Protein Intolerance.