Lysinuric Protein Intolerance (LPI)

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Disease Ontology 12 DOID:0060439 OMIM 58 222700 KEGG 38 H00899 MeSH 45 C562687 D000592 NCIt 51 C121563 SNOMED-CT 69 13138006

ICD10 via Orphanet 35 E72.0 UMLS via Orphanet 75 C0268647 Orphanet 60 ORPHA470 MedGen 43 C0268647 SNOMED-CT via HPO 70 10501004 123983008 124277009 134291007 16294009 165397008 237836003 247546006 248311001 248325000 2492009 249497008 258211005 26544005 267060006 271737000 300359004 302215000 35912001 36440009 371632003 398151007 398152000 409623005 415116008 422400008 422587007 432788009 433146000 47563007 47641009 5468008 58588007 61070002 62315008 64859006 65404009 70241007 74035001 75694006 80515008 84828003 9360008 more UMLS 74 C0268647

NIH Rare Diseases : ⁵⁴ 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 canend-stage renal disease, coma andintellectual 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.

MalaCards based summary : Lysinuric Protein Intolerance, also known as lpi, is related to orotic aciduria and cystinuria, 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 psychotic episodes and muscular hypotonia

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.

Genetics Home Reference : ²⁶ 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.

OMIM : ⁵⁸ 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)

UniProtKB/Swiss-Prot : ⁷⁶ 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 : ⁷⁷ Lysinuric protein intolerance (LPI) is an autosomal recessivemetabolic disorder affecting amino acid... more...

GeneReviews: NBK1361

Clinical features from OMIM:

222700

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