FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term lysinuric protein intolerance ID (Ontology) DOID:0060439 (Human Disease)
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.
Also Known As "dibasic amino aciduria II" ; "hyperdibasic aminoaciduria" ; "LPI"
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 Genes
 lysinuric protein intolerance       2
 for disease ribbon | lysinuric protein intolerance       2
 model of | lysinuric protein intolerance       2
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__amino acid metabolic disorder
       |__lysinuric protein intolerance  2 rec.
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Is a amino acid metabolic disorder
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Synonyms
  • "dibasic amino aciduria II" EXACT
    "hyperdibasic aminoaciduria" EXACT
    "LPI" EXACT OMO:0003012
Secondary IDs
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GARD:3335
MESH:C562687
MIM:222700
NCI:C121563
ORDO:470
SNOMEDCT_US_2023_03_01:13138006
UMLS_CUI:C0268647