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
Other Metabolites Mapped to 'Lysinuric protein intolerance'