OBO ID: DOID:0060439
Term Name: lysinuric protein intolerance Search Ontology:
Synonyms:
  • dibasic amino aciduria II
  • hyperdibasic aminoaciduria
  • LPI
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. (4)
References:
Ontology: Human Disease   ( DOID:0060439 )
OTHER lysinuric protein intolerance PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC7A7 Lysinuric protein intolerance 222700
PHENOTYPE No data available

CITATIONS (1)