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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/1155480 http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007646 url:http://www.ncbi.nlm.nih.gov/books/NBK1361/ url:https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance http://purl.obolibrary.org/obo/ECO_0007638 url:http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance ]
Synonyms: dibasic amino aciduria II LPI hyperdibasic aminoaciduria
Term information
- MESH:C562687
- GARD:3335
- UMLS_CUI:C0268647
- NCI:C121563
- MIM:222700
- SNOMEDCT_US_2023_03_01:13138006
- ORDO:470
DO_rare_slim, NCIthesaurus