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Disease Ontology Browser
lysinuric protein intolerance (DOID:0060439)
Alliance: disease page
Synonyms: dibasic amino aciduria II; hyperdibasic aminoaciduria; LPI
Alt IDs: OMIM:222700, MESH:C562687, NCI:C121563, ORDO:470, UMLS_CUI:C0268647
Definition: 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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/10/2017
MGI 6.10
The Jackson Laboratory