LpiFamilial protein intoleranceHyperdibasic aminoaciduria type 2Other 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)
- HMDB0000574 (L-Cysteine)
- Lysinuric protein intolerance
- 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.