Ontological Term Details

Metabolite
HMDB0000517 (L-Arginine)
Term
Lysinuric protein intolerance
Definition
lpi is caused by a defect in slc7a7, solute carrier family 7, a cationic amino acid transporter. a defect in this enzyme results in accumulation of ammmonia and reticulocytes in blood; glutamine in plasma, carnitine and ferritin in serum, and arginine, lysine and ornithine in urine.
Parent Term
Biochemical pathway
Parent Definition
A linked series of chemical reactions that occur in a defined order within or between organism cells, and lead to a known function or end product.
Synonyms
  • Lpi
  • Familial protein intolerance
  • Hyperdibasic aminoaciduria type 2
  • Other Metabolites Mapped to 'Lysinuric protein intolerance'
  • HMDB0000182 (L-Lysine)
  • HMDB0000214 (Ornithine)
  • HMDB0000517 (L-Arginine)
  • HMDB0000037 (Aldosterone)
  • HMDB0000294 (Urea)
  • HMDB0000492 (Chloride ion)
  • HMDB0000574 (L-Cysteine)
  • HMDB0000586 (Potassium)
  • HMDB0000588 (Sodium)
  • HMDB0000595 (Hydrogen carbonate)
  • References

      • 29140435