| Metadata | |
|---|---|
| ID | DOID:0060439 |
| Name | lysinuric protein intolerance |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/1155480, https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance, http://www.ncbi.nlm.nih.gov/books/NBK1361/, http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance |
| Xrefs |
SNOMEDCT_US_2023_03_01:13138006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
dibasic amino aciduria II [EXACT] hyperdibasic aminoaciduria [EXACT] LPI [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |