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lysinuric protein intolerance

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.
Uniprot Description 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.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0009109:  lysinuric protein intolerance
GARD:0001853: 
GARD:0003335: 
MESH:C562687: 
NCIT:C121563: 
Orphanet:470: 
SCTID:303852004: 
UMLS:C0268647: