Lysinuric Protein Intolerance

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OMIM 57 222700 Disease Ontology 12 DOID:0060439 MeSH 44 C562687 D000592 NCIt 50 C121563 SNOMED-CT 68 13138006 236476008 237943005 303852004 367410007 more Orphanet 59 ORPHA470

ICD10 via Orphanet 34 E72.0 UMLS via Orphanet 74 C0268647 MedGen 42 C0268647 KEGG 37 H00899 SNOMED-CT via HPO 69 258211005 64859006 58588007 398151007 398152000 26544005 36440009 432788009 75694006 16294009 302215000 415116008 84828003 165397008 271737000 248311001 9360008 249497008 300359004 422400008 267060006 62315008 422587007 409623005 247546006 80515008 123983008 134291007 5468008 74035001 124277009 47641009 35912001 433146000 237836003 248325000 2492009 47563007 65404009 70241007 10501004 61070002 more UMLS 73 C0268647

NIH Rare Diseases : ⁵³ 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.

MalaCards based summary : Lysinuric Protein Intolerance, also known as lpi, is related to orotic aciduria and urea cycle disorder, and has symptoms including diarrhea, nausea and vomiting. 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, lung and skin, and related phenotypes are muscular hypotonia and muscle weakness

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 : 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.

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)

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ Lysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria type 2,cationic... more...

GeneReviews: NBK1361

Clinical features from OMIM:

222700

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