Search Ontology:
Human Disease

lysinuric protein intolerance

Term ID
DOID:0060439
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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